OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Le Li, Alden King-Yung Leung, Tsz-Piu Kwok, Yvonne Y. Y. Lai, Iris K. Pang, Grace Tin-Yun Chung, Angel C. Y. Mak, Annie Poon, Catherine Chu, Menglu Li, Jacob J. K. Wu, Ernest T. Lam, Han Cao, Chin Lin, Justin Sibert, Siu-Ming Yiu, Ming Xiao, Kwok-Wai Lo, Pui-Yan Kwok, Ting-Fung Chan, Kevin Y. Yip

ABSTRACT

We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method. Applying OMSV to a human cell line, we identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers. Independent experimental validation confirmed the high accuracy of these SVs. The OMSV software is available at http://yiplab.cse.cuhk.edu.hk/omsv/ . More... »

PAGES

230

References to SciGraph publications

  • 2015-12. Tools and pipelines for BioNano data: molecule assembly pipeline and FASTA super scaffolding tool in BMC GENOMICS
  • 2011-05. Genome structural variation discovery and genotyping in NATURE REVIEWS GENETICS
  • 2012-02. Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms in GENOME BIOLOGY
  • 2013-12. Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis in BMC GENOMICS
  • 2015-12. Assessing structural variation in a personal genome—towards a human reference diploid genome in BMC GENOMICS
  • 2012-12. AGORA: Assembly Guided by Optical Restriction Alignment in BMC BIOINFORMATICS
  • 2013-12. Complete genomic sequence of Epstein-Barr virus in nasopharyngeal carcinoma cell line C666-1 in INFECTIOUS AGENTS AND CANCER
  • 2012-08. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly in NATURE BIOTECHNOLOGY
  • 2010-05. Towards a comprehensive structural variation map of an individual human genome in GENOME BIOLOGY
  • 2013-02. Sequencing and automated whole-genome optical mapping of the genome of a domestic goat (Capra hircus) in NATURE BIOTECHNOLOGY
  • 2015-10. An integrated map of structural variation in 2,504 human genomes in NATURE
  • 2011-01. Integrative genomics viewer in NATURE BIOTECHNOLOGY
  • 2009-11. Computational methods for discovering structural variation with next-generation sequencing in NATURE METHODS
  • 2015-05. Large-scale whole-genome sequencing of the Icelandic population in NATURE GENETICS
  • 2013-02. Phenotypic impact of genomic structural variation: insights from and for human disease in NATURE REVIEWS GENETICS
  • 2012-12. SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler in GIGASCIENCE
  • 1996. Maximum Entropy and Bayesian Methods, Santa Fe, New Mexico, U.S.A., 1995 Proceedings of the Fifteenth International Workshop on Maximum Entropy and Bayesian Methods in NONE
  • 2010-10-28. A map of human genome variation from population-scale sequencing in NATURE
  • 2011-08. Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly in NATURE BIOTECHNOLOGY
  • 2016-10. De novo assembly and phasing of a Korean human genome in NATURE
  • 1996. Estimators for the Cauchy Distribution in MAXIMUM ENTROPY AND BAYESIAN METHODS
  • 2014-12. Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology in GIGASCIENCE
  • 2016-12. svclassify: a method to establish benchmark structural variant calls in BMC GENOMICS
  • 2006-02. Structural variation in the human genome in NATURE REVIEWS GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13059-017-1356-2

    DOI

    http://dx.doi.org/10.1186/s13059-017-1356-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1093085731

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29195502


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biochemistry and Cell Biology", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Computational Biology", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Computer Simulation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome, Human", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genomic Structural Variation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genomics", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Software", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "Department of Computer Science and Engineering, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Li", 
            "givenName": "Le", 
            "id": "sg:person.011400322625.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011400322625.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "School of Life Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Leung", 
            "givenName": "Alden King-Yung", 
            "id": "sg:person.0662253701.67", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662253701.67"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "Department of Computer Science and Engineering, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kwok", 
            "givenName": "Tsz-Piu", 
            "id": "sg:person.01053536225.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053536225.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, San Francisco", 
              "id": "https://www.grid.ac/institutes/grid.266102.1", 
              "name": [
                "Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lai", 
            "givenName": "Yvonne Y. Y.", 
            "id": "sg:person.01172114233.53", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172114233.53"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "School of Life Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pang", 
            "givenName": "Iris K.", 
            "id": "sg:person.01237654527.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237654527.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chung", 
            "givenName": "Grace Tin-Yun", 
            "id": "sg:person.0710314133.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710314133.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, San Francisco", 
              "id": "https://www.grid.ac/institutes/grid.266102.1", 
              "name": [
                "Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mak", 
            "givenName": "Angel C. Y.", 
            "id": "sg:person.01152270066.43", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152270066.43"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, San Francisco", 
              "id": "https://www.grid.ac/institutes/grid.266102.1", 
              "name": [
                "Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Poon", 
            "givenName": "Annie", 
            "id": "sg:person.01245310043.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245310043.39"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, San Francisco", 
              "id": "https://www.grid.ac/institutes/grid.266102.1", 
              "name": [
                "Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chu", 
            "givenName": "Catherine", 
            "id": "sg:person.0615203314.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615203314.76"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Computer Science, The University of Hong Kong, Pokfulam, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Li", 
            "givenName": "Menglu", 
            "id": "sg:person.010121610225.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010121610225.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Computer Science, The University of Hong Kong, Pokfulam, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wu", 
            "givenName": "Jacob J. K.", 
            "id": "sg:person.011514551225.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011514551225.39"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "BioNano Genomics (United States)", 
              "id": "https://www.grid.ac/institutes/grid.470262.5", 
              "name": [
                "BioNano Genomics, San Diego, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lam", 
            "givenName": "Ernest T.", 
            "id": "sg:person.0656050243.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656050243.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "BioNano Genomics (United States)", 
              "id": "https://www.grid.ac/institutes/grid.470262.5", 
              "name": [
                "BioNano Genomics, San Diego, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cao", 
            "givenName": "Han", 
            "id": "sg:person.01040462140.83", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040462140.83"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, San Francisco", 
              "id": "https://www.grid.ac/institutes/grid.266102.1", 
              "name": [
                "Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lin", 
            "givenName": "Chin", 
            "id": "sg:person.01333411240.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333411240.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Drexel University", 
              "id": "https://www.grid.ac/institutes/grid.166341.7", 
              "name": [
                "School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sibert", 
            "givenName": "Justin", 
            "id": "sg:person.01271311751.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271311751.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.194645.b", 
              "name": [
                "Department of Computer Science, The University of Hong Kong, Pokfulam, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yiu", 
            "givenName": "Siu-Ming", 
            "id": "sg:person.014353647011.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014353647011.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Drexel University", 
              "id": "https://www.grid.ac/institutes/grid.166341.7", 
              "name": [
                "School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, Pennsylvania, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Xiao", 
            "givenName": "Ming", 
            "id": "sg:person.01154710540.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154710540.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lo", 
            "givenName": "Kwok-Wai", 
            "id": "sg:person.0755107541.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755107541.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, San Francisco", 
              "id": "https://www.grid.ac/institutes/grid.266102.1", 
              "name": [
                "Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA", 
                "Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kwok", 
            "givenName": "Pui-Yan", 
            "id": "sg:person.01221224024.09", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221224024.09"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "School of Life Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong", 
                "Hong Kong Bioinformatics Centre, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong", 
                "Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong", 
                "CUHK-BGI Innovation Institute of Trans-omics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chan", 
            "givenName": "Ting-Fung", 
            "id": "sg:person.0665227365.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0665227365.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Chinese University of Hong Kong", 
              "id": "https://www.grid.ac/institutes/grid.10784.3a", 
              "name": [
                "Department of Computer Science and Engineering, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong", 
                "Hong Kong Bioinformatics Centre, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong", 
                "Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong", 
                "CUHK-BGI Innovation Institute of Trans-omics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yip", 
            "givenName": "Kevin Y.", 
            "id": "sg:person.0710624727.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710624727.27"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1186/1750-9378-8-29", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000613303", 
              "https://doi.org/10.1186/1750-9378-8-29"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0914638107", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002734064"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-94-011-5430-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003228283", 
              "https://doi.org/10.1007/978-94-011-5430-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-94-011-5430-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003228283", 
              "https://doi.org/10.1007/978-94-011-5430-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg2958", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004346662", 
              "https://doi.org/10.1038/nrg2958"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1072047", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006710139"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09534", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010608717", 
              "https://doi.org/10.1038/nature09534"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09534", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010608717", 
              "https://doi.org/10.1038/nature09534"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.115.183483", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013648450"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1534/genetics.115.183483", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013648450"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg3373", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014282807", 
              "https://doi.org/10.1038/nrg3373"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/2047-217x-1-18", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016521225", 
              "https://doi.org/10.1186/2047-217x-1-18"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1754", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019307928", 
              "https://doi.org/10.1038/nbt.1754"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2010-11-5-r52", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019315498", 
              "https://doi.org/10.1186/gb-2010-11-5-r52"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.1374", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019637093", 
              "https://doi.org/10.1038/nmeth.1374"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.1374", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019637093", 
              "https://doi.org/10.1038/nmeth.1374"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3247", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020692466", 
              "https://doi.org/10.1038/ng.3247"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2105-13-189", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021027371", 
              "https://doi.org/10.1186/1471-2105-13-189"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2105-13-189", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021027371", 
              "https://doi.org/10.1186/1471-2105-13-189"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btl063", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022472488"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.229102", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022792016"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/(sici)1097-0215(19990924)83:1<121::aid-ijc21>3.0.co;2-f", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024527701"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2164-14-505", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026214314", 
              "https://doi.org/10.1186/1471-2164-14-505"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.7150/jca.13150", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026446436"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-016-2366-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026798286", 
              "https://doi.org/10.1186/s12864-016-2366-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2012-13-2-r15", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028349968", 
              "https://doi.org/10.1186/gb-2012-13-2-r15"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pbio.0050254", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028942453"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0055864", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029117953"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.092981.109", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029322821"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1146/annurev-med-100708-204735", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031129648"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15394", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031274231", 
              "https://doi.org/10.1038/nature15394"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp394", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032266264"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2202/1544-6115.1266", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032452301"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1767", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033454038", 
              "https://doi.org/10.1038/nrg1767"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1767", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033454038", 
              "https://doi.org/10.1038/nrg1767"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btn102", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034378118"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btp324", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038266369"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/2047-217x-3-34", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038789652", 
              "https://doi.org/10.1186/2047-217x-3-34"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-94-015-8729-7_20", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038948030", 
              "https://doi.org/10.1007/978-94-015-8729-7_20"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/bts187", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039045908"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkt958", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039492205"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btv204", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042170731"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.2478", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042175144", 
              "https://doi.org/10.1038/nbt.2478"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.187101", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042408677"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-015-1911-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042730672", 
              "https://doi.org/10.1186/s12864-015-1911-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.2303", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045232898", 
              "https://doi.org/10.1038/nbt.2303"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btq293", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045370967"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/path.4240", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049303510"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/path.4240", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049303510"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.1220349110", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049385761"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature20098", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049863914", 
              "https://doi.org/10.1038/nature20098"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1904", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052098422", 
              "https://doi.org/10.1038/nbt.1904"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-015-1479-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052180130", 
              "https://doi.org/10.1186/s12864-015-1479-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s12864-015-1479-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052180130", 
              "https://doi.org/10.1186/s12864-015-1479-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1021/ac0496401", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1054996644"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1021/ac0496401", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1054996644"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btv710", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059414585"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btw620", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083732332"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btw620", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083732332"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btx251", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085329545"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/bioinformatics/btx317", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1085467223"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2017-12", 
        "datePublishedReg": "2017-12-01", 
        "description": "We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method. Applying OMSV to a human cell line, we identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers. Independent experimental validation confirmed the high accuracy of these SVs. The OMSV software is available at http://yiplab.cse.cuhk.edu.hk/omsv/ .", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/s13059-017-1356-2", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.7428028", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1023439", 
            "issn": [
              "1474-760X", 
              "1465-6906"
            ], 
            "name": "Genome Biology", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "18"
          }
        ], 
        "name": "OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps", 
        "pagination": "230", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "13eb5dea8919d76856f670176064146ba446148c0a516dd5d8d99fe2050138ca"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "29195502"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "100960660"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/s13059-017-1356-2"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1093085731"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/s13059-017-1356-2", 
          "https://app.dimensions.ai/details/publication/pub.1093085731"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T16:38", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8669_00000493.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186/s13059-017-1356-2"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13059-017-1356-2'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13059-017-1356-2'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13059-017-1356-2'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13059-017-1356-2'


     

    This table displays all metadata directly associated to this object as RDF triples.

    434 TRIPLES      21 PREDICATES      87 URIs      28 LITERALS      16 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/s13059-017-1356-2 schema:about N32bc776565094f3c96ddcf6e1ec54a20
    2 N3fe87a69c1774e89891faee5a65ae9e1
    3 N53243e8f8e32459ca5de549433c7d48d
    4 N5c899e2d7ee84e36b869ea69959e98f4
    5 N85b601f9dd584c01bc2b6a8648635c13
    6 Nc1bb3558b5344bb0a254c6cc6fbccb8f
    7 Nd8342a50f4cc4924bd743c440e3629b2
    8 anzsrc-for:06
    9 anzsrc-for:0601
    10 schema:author N13734790443342ebb97612344ed6037d
    11 schema:citation sg:pub.10.1007/978-94-011-5430-7
    12 sg:pub.10.1007/978-94-015-8729-7_20
    13 sg:pub.10.1038/nature09534
    14 sg:pub.10.1038/nature15394
    15 sg:pub.10.1038/nature20098
    16 sg:pub.10.1038/nbt.1754
    17 sg:pub.10.1038/nbt.1904
    18 sg:pub.10.1038/nbt.2303
    19 sg:pub.10.1038/nbt.2478
    20 sg:pub.10.1038/ng.3247
    21 sg:pub.10.1038/nmeth.1374
    22 sg:pub.10.1038/nrg1767
    23 sg:pub.10.1038/nrg2958
    24 sg:pub.10.1038/nrg3373
    25 sg:pub.10.1186/1471-2105-13-189
    26 sg:pub.10.1186/1471-2164-14-505
    27 sg:pub.10.1186/1750-9378-8-29
    28 sg:pub.10.1186/2047-217x-1-18
    29 sg:pub.10.1186/2047-217x-3-34
    30 sg:pub.10.1186/gb-2010-11-5-r52
    31 sg:pub.10.1186/gb-2012-13-2-r15
    32 sg:pub.10.1186/s12864-015-1479-3
    33 sg:pub.10.1186/s12864-015-1911-8
    34 sg:pub.10.1186/s12864-016-2366-2
    35 https://doi.org/10.1002/(sici)1097-0215(19990924)83:1<121::aid-ijc21>3.0.co;2-f
    36 https://doi.org/10.1002/path.4240
    37 https://doi.org/10.1021/ac0496401
    38 https://doi.org/10.1073/pnas.0914638107
    39 https://doi.org/10.1073/pnas.1220349110
    40 https://doi.org/10.1093/bioinformatics/btl063
    41 https://doi.org/10.1093/bioinformatics/btn102
    42 https://doi.org/10.1093/bioinformatics/btp324
    43 https://doi.org/10.1093/bioinformatics/btp394
    44 https://doi.org/10.1093/bioinformatics/btq293
    45 https://doi.org/10.1093/bioinformatics/bts187
    46 https://doi.org/10.1093/bioinformatics/btv204
    47 https://doi.org/10.1093/bioinformatics/btv710
    48 https://doi.org/10.1093/bioinformatics/btw620
    49 https://doi.org/10.1093/bioinformatics/btx251
    50 https://doi.org/10.1093/bioinformatics/btx317
    51 https://doi.org/10.1093/nar/gkt958
    52 https://doi.org/10.1101/gr.092981.109
    53 https://doi.org/10.1101/gr.187101
    54 https://doi.org/10.1101/gr.229102
    55 https://doi.org/10.1126/science.1072047
    56 https://doi.org/10.1146/annurev-med-100708-204735
    57 https://doi.org/10.1371/journal.pbio.0050254
    58 https://doi.org/10.1371/journal.pone.0055864
    59 https://doi.org/10.1534/genetics.115.183483
    60 https://doi.org/10.2202/1544-6115.1266
    61 https://doi.org/10.7150/jca.13150
    62 schema:datePublished 2017-12
    63 schema:datePublishedReg 2017-12-01
    64 schema:description We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method. Applying OMSV to a human cell line, we identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers. Independent experimental validation confirmed the high accuracy of these SVs. The OMSV software is available at http://yiplab.cse.cuhk.edu.hk/omsv/ .
    65 schema:genre research_article
    66 schema:inLanguage en
    67 schema:isAccessibleForFree true
    68 schema:isPartOf N398b773bbc7d4df1923c9be70cc2f3ae
    69 N66ce79b2aef7420c8973f7b455ec0e48
    70 sg:journal.1023439
    71 schema:name OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps
    72 schema:pagination 230
    73 schema:productId N0c60a19c30484fe4953da884bdacaa57
    74 N82ddd12cf08242b7a1434e41197eceab
    75 N8a666c06a78e4a49863132089b61e872
    76 N961b4d7f995d4aa6aaf3662a1a7e9bc6
    77 Nb906275666724753833696b11e2c7d29
    78 schema:sameAs https://app.dimensions.ai/details/publication/pub.1093085731
    79 https://doi.org/10.1186/s13059-017-1356-2
    80 schema:sdDatePublished 2019-04-10T16:38
    81 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    82 schema:sdPublisher N92ddced92e4148e197301adb25360345
    83 schema:url http://link.springer.com/10.1186/s13059-017-1356-2
    84 sgo:license sg:explorer/license/
    85 sgo:sdDataset articles
    86 rdf:type schema:ScholarlyArticle
    87 N081f28176eaa4c1dace7b56a317da4de rdf:first sg:person.01245310043.39
    88 rdf:rest Na48fb5962db64cd2a4a3d6cf39f1e88a
    89 N0a541e2390d444b0855e25df5b493dfc rdf:first sg:person.01053536225.15
    90 rdf:rest Nd2b83d149e314346b9a5baedfac4e622
    91 N0c60a19c30484fe4953da884bdacaa57 schema:name pubmed_id
    92 schema:value 29195502
    93 rdf:type schema:PropertyValue
    94 N13734790443342ebb97612344ed6037d rdf:first sg:person.011400322625.99
    95 rdf:rest Nabc6992b9747497db893b7a8caeeb2ba
    96 N24914a1da9e442898b6f0bf9984000a3 rdf:first sg:person.0710314133.24
    97 rdf:rest Na2313318bbdc4f3b8ef98210ccc0956f
    98 N26825a3aceaa493d88a7e90f091fa504 rdf:first sg:person.0710624727.27
    99 rdf:rest rdf:nil
    100 N32bc776565094f3c96ddcf6e1ec54a20 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    101 schema:name Humans
    102 rdf:type schema:DefinedTerm
    103 N3734bef47adf4034a77d6c58273b840d rdf:first sg:person.01237654527.12
    104 rdf:rest N24914a1da9e442898b6f0bf9984000a3
    105 N398b773bbc7d4df1923c9be70cc2f3ae schema:volumeNumber 18
    106 rdf:type schema:PublicationVolume
    107 N3fe87a69c1774e89891faee5a65ae9e1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    108 schema:name Software
    109 rdf:type schema:DefinedTerm
    110 N41b8fae004ab4b68921661930b6c06c0 rdf:first sg:person.010121610225.72
    111 rdf:rest Ne1af2aff14a14350ab9e754e0e6e67e2
    112 N53243e8f8e32459ca5de549433c7d48d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    113 schema:name Computational Biology
    114 rdf:type schema:DefinedTerm
    115 N5c899e2d7ee84e36b869ea69959e98f4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    116 schema:name Genome, Human
    117 rdf:type schema:DefinedTerm
    118 N5fdb46c1f0884e209703f4f6f25e3503 rdf:first sg:person.0755107541.07
    119 rdf:rest Nc06d7b64af254c199d443771e86fb3cc
    120 N66ce79b2aef7420c8973f7b455ec0e48 schema:issueNumber 1
    121 rdf:type schema:PublicationIssue
    122 N7589666569a34e7788dc82ae4c3a48d1 rdf:first sg:person.01154710540.58
    123 rdf:rest N5fdb46c1f0884e209703f4f6f25e3503
    124 N7b5a5cab2c0b4cdeacb3adc17ae07967 rdf:first sg:person.01333411240.61
    125 rdf:rest N8abd47e620cb485a8bc8565bbba54ab4
    126 N82ddd12cf08242b7a1434e41197eceab schema:name readcube_id
    127 schema:value 13eb5dea8919d76856f670176064146ba446148c0a516dd5d8d99fe2050138ca
    128 rdf:type schema:PropertyValue
    129 N85b601f9dd584c01bc2b6a8648635c13 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Genomics
    131 rdf:type schema:DefinedTerm
    132 N8a666c06a78e4a49863132089b61e872 schema:name dimensions_id
    133 schema:value pub.1093085731
    134 rdf:type schema:PropertyValue
    135 N8abd47e620cb485a8bc8565bbba54ab4 rdf:first sg:person.01271311751.05
    136 rdf:rest N901a8aa11f194f31bef753537d91d328
    137 N901a8aa11f194f31bef753537d91d328 rdf:first sg:person.014353647011.13
    138 rdf:rest N7589666569a34e7788dc82ae4c3a48d1
    139 N92ddced92e4148e197301adb25360345 schema:name Springer Nature - SN SciGraph project
    140 rdf:type schema:Organization
    141 N961b4d7f995d4aa6aaf3662a1a7e9bc6 schema:name nlm_unique_id
    142 schema:value 100960660
    143 rdf:type schema:PropertyValue
    144 N967b51ff67364022886648f1db1057c8 rdf:first sg:person.01040462140.83
    145 rdf:rest N7b5a5cab2c0b4cdeacb3adc17ae07967
    146 Na2313318bbdc4f3b8ef98210ccc0956f rdf:first sg:person.01152270066.43
    147 rdf:rest N081f28176eaa4c1dace7b56a317da4de
    148 Na48fb5962db64cd2a4a3d6cf39f1e88a rdf:first sg:person.0615203314.76
    149 rdf:rest N41b8fae004ab4b68921661930b6c06c0
    150 Nabc6992b9747497db893b7a8caeeb2ba rdf:first sg:person.0662253701.67
    151 rdf:rest N0a541e2390d444b0855e25df5b493dfc
    152 Nb906275666724753833696b11e2c7d29 schema:name doi
    153 schema:value 10.1186/s13059-017-1356-2
    154 rdf:type schema:PropertyValue
    155 Nc06d7b64af254c199d443771e86fb3cc rdf:first sg:person.01221224024.09
    156 rdf:rest Ne03fb7ac0c3f470390fff0ce72ff5737
    157 Nc1bb3558b5344bb0a254c6cc6fbccb8f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    158 schema:name Genomic Structural Variation
    159 rdf:type schema:DefinedTerm
    160 Nd2b83d149e314346b9a5baedfac4e622 rdf:first sg:person.01172114233.53
    161 rdf:rest N3734bef47adf4034a77d6c58273b840d
    162 Nd8342a50f4cc4924bd743c440e3629b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    163 schema:name Computer Simulation
    164 rdf:type schema:DefinedTerm
    165 Ne03fb7ac0c3f470390fff0ce72ff5737 rdf:first sg:person.0665227365.30
    166 rdf:rest N26825a3aceaa493d88a7e90f091fa504
    167 Ne1af2aff14a14350ab9e754e0e6e67e2 rdf:first sg:person.011514551225.39
    168 rdf:rest Neaa88853821946a697ae0c4610544423
    169 Neaa88853821946a697ae0c4610544423 rdf:first sg:person.0656050243.90
    170 rdf:rest N967b51ff67364022886648f1db1057c8
    171 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    172 schema:name Biological Sciences
    173 rdf:type schema:DefinedTerm
    174 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
    175 schema:name Biochemistry and Cell Biology
    176 rdf:type schema:DefinedTerm
    177 sg:grant.7428028 http://pending.schema.org/fundedItem sg:pub.10.1186/s13059-017-1356-2
    178 rdf:type schema:MonetaryGrant
    179 sg:journal.1023439 schema:issn 1465-6906
    180 1474-760X
    181 schema:name Genome Biology
    182 rdf:type schema:Periodical
    183 sg:person.010121610225.72 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
    184 schema:familyName Li
    185 schema:givenName Menglu
    186 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010121610225.72
    187 rdf:type schema:Person
    188 sg:person.01040462140.83 schema:affiliation https://www.grid.ac/institutes/grid.470262.5
    189 schema:familyName Cao
    190 schema:givenName Han
    191 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040462140.83
    192 rdf:type schema:Person
    193 sg:person.01053536225.15 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    194 schema:familyName Kwok
    195 schema:givenName Tsz-Piu
    196 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053536225.15
    197 rdf:type schema:Person
    198 sg:person.011400322625.99 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    199 schema:familyName Li
    200 schema:givenName Le
    201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011400322625.99
    202 rdf:type schema:Person
    203 sg:person.011514551225.39 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
    204 schema:familyName Wu
    205 schema:givenName Jacob J. K.
    206 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011514551225.39
    207 rdf:type schema:Person
    208 sg:person.01152270066.43 schema:affiliation https://www.grid.ac/institutes/grid.266102.1
    209 schema:familyName Mak
    210 schema:givenName Angel C. Y.
    211 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152270066.43
    212 rdf:type schema:Person
    213 sg:person.01154710540.58 schema:affiliation https://www.grid.ac/institutes/grid.166341.7
    214 schema:familyName Xiao
    215 schema:givenName Ming
    216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154710540.58
    217 rdf:type schema:Person
    218 sg:person.01172114233.53 schema:affiliation https://www.grid.ac/institutes/grid.266102.1
    219 schema:familyName Lai
    220 schema:givenName Yvonne Y. Y.
    221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172114233.53
    222 rdf:type schema:Person
    223 sg:person.01221224024.09 schema:affiliation https://www.grid.ac/institutes/grid.266102.1
    224 schema:familyName Kwok
    225 schema:givenName Pui-Yan
    226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221224024.09
    227 rdf:type schema:Person
    228 sg:person.01237654527.12 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    229 schema:familyName Pang
    230 schema:givenName Iris K.
    231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237654527.12
    232 rdf:type schema:Person
    233 sg:person.01245310043.39 schema:affiliation https://www.grid.ac/institutes/grid.266102.1
    234 schema:familyName Poon
    235 schema:givenName Annie
    236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245310043.39
    237 rdf:type schema:Person
    238 sg:person.01271311751.05 schema:affiliation https://www.grid.ac/institutes/grid.166341.7
    239 schema:familyName Sibert
    240 schema:givenName Justin
    241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271311751.05
    242 rdf:type schema:Person
    243 sg:person.01333411240.61 schema:affiliation https://www.grid.ac/institutes/grid.266102.1
    244 schema:familyName Lin
    245 schema:givenName Chin
    246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333411240.61
    247 rdf:type schema:Person
    248 sg:person.014353647011.13 schema:affiliation https://www.grid.ac/institutes/grid.194645.b
    249 schema:familyName Yiu
    250 schema:givenName Siu-Ming
    251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014353647011.13
    252 rdf:type schema:Person
    253 sg:person.0615203314.76 schema:affiliation https://www.grid.ac/institutes/grid.266102.1
    254 schema:familyName Chu
    255 schema:givenName Catherine
    256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615203314.76
    257 rdf:type schema:Person
    258 sg:person.0656050243.90 schema:affiliation https://www.grid.ac/institutes/grid.470262.5
    259 schema:familyName Lam
    260 schema:givenName Ernest T.
    261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656050243.90
    262 rdf:type schema:Person
    263 sg:person.0662253701.67 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    264 schema:familyName Leung
    265 schema:givenName Alden King-Yung
    266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662253701.67
    267 rdf:type schema:Person
    268 sg:person.0665227365.30 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    269 schema:familyName Chan
    270 schema:givenName Ting-Fung
    271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0665227365.30
    272 rdf:type schema:Person
    273 sg:person.0710314133.24 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    274 schema:familyName Chung
    275 schema:givenName Grace Tin-Yun
    276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710314133.24
    277 rdf:type schema:Person
    278 sg:person.0710624727.27 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    279 schema:familyName Yip
    280 schema:givenName Kevin Y.
    281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710624727.27
    282 rdf:type schema:Person
    283 sg:person.0755107541.07 schema:affiliation https://www.grid.ac/institutes/grid.10784.3a
    284 schema:familyName Lo
    285 schema:givenName Kwok-Wai
    286 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755107541.07
    287 rdf:type schema:Person
    288 sg:pub.10.1007/978-94-011-5430-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003228283
    289 https://doi.org/10.1007/978-94-011-5430-7
    290 rdf:type schema:CreativeWork
    291 sg:pub.10.1007/978-94-015-8729-7_20 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038948030
    292 https://doi.org/10.1007/978-94-015-8729-7_20
    293 rdf:type schema:CreativeWork
    294 sg:pub.10.1038/nature09534 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010608717
    295 https://doi.org/10.1038/nature09534
    296 rdf:type schema:CreativeWork
    297 sg:pub.10.1038/nature15394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031274231
    298 https://doi.org/10.1038/nature15394
    299 rdf:type schema:CreativeWork
    300 sg:pub.10.1038/nature20098 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049863914
    301 https://doi.org/10.1038/nature20098
    302 rdf:type schema:CreativeWork
    303 sg:pub.10.1038/nbt.1754 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019307928
    304 https://doi.org/10.1038/nbt.1754
    305 rdf:type schema:CreativeWork
    306 sg:pub.10.1038/nbt.1904 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052098422
    307 https://doi.org/10.1038/nbt.1904
    308 rdf:type schema:CreativeWork
    309 sg:pub.10.1038/nbt.2303 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045232898
    310 https://doi.org/10.1038/nbt.2303
    311 rdf:type schema:CreativeWork
    312 sg:pub.10.1038/nbt.2478 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042175144
    313 https://doi.org/10.1038/nbt.2478
    314 rdf:type schema:CreativeWork
    315 sg:pub.10.1038/ng.3247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020692466
    316 https://doi.org/10.1038/ng.3247
    317 rdf:type schema:CreativeWork
    318 sg:pub.10.1038/nmeth.1374 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019637093
    319 https://doi.org/10.1038/nmeth.1374
    320 rdf:type schema:CreativeWork
    321 sg:pub.10.1038/nrg1767 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033454038
    322 https://doi.org/10.1038/nrg1767
    323 rdf:type schema:CreativeWork
    324 sg:pub.10.1038/nrg2958 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004346662
    325 https://doi.org/10.1038/nrg2958
    326 rdf:type schema:CreativeWork
    327 sg:pub.10.1038/nrg3373 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014282807
    328 https://doi.org/10.1038/nrg3373
    329 rdf:type schema:CreativeWork
    330 sg:pub.10.1186/1471-2105-13-189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021027371
    331 https://doi.org/10.1186/1471-2105-13-189
    332 rdf:type schema:CreativeWork
    333 sg:pub.10.1186/1471-2164-14-505 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026214314
    334 https://doi.org/10.1186/1471-2164-14-505
    335 rdf:type schema:CreativeWork
    336 sg:pub.10.1186/1750-9378-8-29 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000613303
    337 https://doi.org/10.1186/1750-9378-8-29
    338 rdf:type schema:CreativeWork
    339 sg:pub.10.1186/2047-217x-1-18 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016521225
    340 https://doi.org/10.1186/2047-217x-1-18
    341 rdf:type schema:CreativeWork
    342 sg:pub.10.1186/2047-217x-3-34 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038789652
    343 https://doi.org/10.1186/2047-217x-3-34
    344 rdf:type schema:CreativeWork
    345 sg:pub.10.1186/gb-2010-11-5-r52 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019315498
    346 https://doi.org/10.1186/gb-2010-11-5-r52
    347 rdf:type schema:CreativeWork
    348 sg:pub.10.1186/gb-2012-13-2-r15 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028349968
    349 https://doi.org/10.1186/gb-2012-13-2-r15
    350 rdf:type schema:CreativeWork
    351 sg:pub.10.1186/s12864-015-1479-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052180130
    352 https://doi.org/10.1186/s12864-015-1479-3
    353 rdf:type schema:CreativeWork
    354 sg:pub.10.1186/s12864-015-1911-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042730672
    355 https://doi.org/10.1186/s12864-015-1911-8
    356 rdf:type schema:CreativeWork
    357 sg:pub.10.1186/s12864-016-2366-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026798286
    358 https://doi.org/10.1186/s12864-016-2366-2
    359 rdf:type schema:CreativeWork
    360 https://doi.org/10.1002/(sici)1097-0215(19990924)83:1<121::aid-ijc21>3.0.co;2-f schema:sameAs https://app.dimensions.ai/details/publication/pub.1024527701
    361 rdf:type schema:CreativeWork
    362 https://doi.org/10.1002/path.4240 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049303510
    363 rdf:type schema:CreativeWork
    364 https://doi.org/10.1021/ac0496401 schema:sameAs https://app.dimensions.ai/details/publication/pub.1054996644
    365 rdf:type schema:CreativeWork
    366 https://doi.org/10.1073/pnas.0914638107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002734064
    367 rdf:type schema:CreativeWork
    368 https://doi.org/10.1073/pnas.1220349110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049385761
    369 rdf:type schema:CreativeWork
    370 https://doi.org/10.1093/bioinformatics/btl063 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022472488
    371 rdf:type schema:CreativeWork
    372 https://doi.org/10.1093/bioinformatics/btn102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034378118
    373 rdf:type schema:CreativeWork
    374 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
    375 rdf:type schema:CreativeWork
    376 https://doi.org/10.1093/bioinformatics/btp394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032266264
    377 rdf:type schema:CreativeWork
    378 https://doi.org/10.1093/bioinformatics/btq293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045370967
    379 rdf:type schema:CreativeWork
    380 https://doi.org/10.1093/bioinformatics/bts187 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039045908
    381 rdf:type schema:CreativeWork
    382 https://doi.org/10.1093/bioinformatics/btv204 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042170731
    383 rdf:type schema:CreativeWork
    384 https://doi.org/10.1093/bioinformatics/btv710 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059414585
    385 rdf:type schema:CreativeWork
    386 https://doi.org/10.1093/bioinformatics/btw620 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083732332
    387 rdf:type schema:CreativeWork
    388 https://doi.org/10.1093/bioinformatics/btx251 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085329545
    389 rdf:type schema:CreativeWork
    390 https://doi.org/10.1093/bioinformatics/btx317 schema:sameAs https://app.dimensions.ai/details/publication/pub.1085467223
    391 rdf:type schema:CreativeWork
    392 https://doi.org/10.1093/nar/gkt958 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039492205
    393 rdf:type schema:CreativeWork
    394 https://doi.org/10.1101/gr.092981.109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029322821
    395 rdf:type schema:CreativeWork
    396 https://doi.org/10.1101/gr.187101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042408677
    397 rdf:type schema:CreativeWork
    398 https://doi.org/10.1101/gr.229102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022792016
    399 rdf:type schema:CreativeWork
    400 https://doi.org/10.1126/science.1072047 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006710139
    401 rdf:type schema:CreativeWork
    402 https://doi.org/10.1146/annurev-med-100708-204735 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031129648
    403 rdf:type schema:CreativeWork
    404 https://doi.org/10.1371/journal.pbio.0050254 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028942453
    405 rdf:type schema:CreativeWork
    406 https://doi.org/10.1371/journal.pone.0055864 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029117953
    407 rdf:type schema:CreativeWork
    408 https://doi.org/10.1534/genetics.115.183483 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013648450
    409 rdf:type schema:CreativeWork
    410 https://doi.org/10.2202/1544-6115.1266 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032452301
    411 rdf:type schema:CreativeWork
    412 https://doi.org/10.7150/jca.13150 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026446436
    413 rdf:type schema:CreativeWork
    414 https://www.grid.ac/institutes/grid.10784.3a schema:alternateName Chinese University of Hong Kong
    415 schema:name CUHK-BGI Innovation Institute of Trans-omics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    416 Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    417 Department of Computer Science and Engineering, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    418 Hong Kong Bioinformatics Centre, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    419 Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    420 School of Life Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong
    421 rdf:type schema:Organization
    422 https://www.grid.ac/institutes/grid.166341.7 schema:alternateName Drexel University
    423 schema:name School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, Pennsylvania, USA
    424 rdf:type schema:Organization
    425 https://www.grid.ac/institutes/grid.194645.b schema:alternateName University of Hong Kong
    426 schema:name Department of Computer Science, The University of Hong Kong, Pokfulam, Hong Kong
    427 rdf:type schema:Organization
    428 https://www.grid.ac/institutes/grid.266102.1 schema:alternateName University of California, San Francisco
    429 schema:name Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA
    430 Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA
    431 rdf:type schema:Organization
    432 https://www.grid.ac/institutes/grid.470262.5 schema:alternateName BioNano Genomics (United States)
    433 schema:name BioNano Genomics, San Diego, California, USA
    434 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...