Multiplexed genotyping with sequence-tagged molecular inversion probes View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-06

AUTHORS

Paul Hardenbol, Johan Banér, Maneesh Jain, Mats Nilsson, Eugeni A Namsaraev, George A Karlin-Neumann, Hossein Fakhrai-Rad, Mostafa Ronaghi, Thomas D Willis, Ulf Landegren, Ronald W Davis

ABSTRACT

We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing. More... »

PAGES

673-678

Journal

TITLE

Nature Biotechnology

ISSUE

6

VOLUME

21

Related Patents

  • Methods And Compositions Involving Microrna
  • Polynucleotides For Diagnostic And Prognostic Of A Cardiac Disease
  • Improved Methods For Beaming
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Polynucleotide And Use Thereof
  • Methods For Non-Invasive Prenatal Ploidy Calling
  • Methods For Making Nucleotide Probes For Sequencing And Synthesis
  • Micrornas Differentially Expressed In Cervical Cancer And Uses Thereof
  • Methods And Compositions Involving Mir-135b For Distinguishing Pancreatic Cancer From Benign Pancreatic Disease
  • Cooperative Primers, Probes, And Applications Thereof
  • System And Methods For Massively Parallel Analysis Of Nucleic Acids In Single Cells
  • Selective Enrichment Of Nucleic Acids
  • Recombinant Fusion Proteins And Libraries From Immune Cell Repertoires
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Improved Compositions And Methods For Molecular Inversion Probe Assays
  • Systems And Methods For Genetic Analysis
  • Nucleic Acids And Methods For Detecting Methylation Status
  • Gene Analysis Method Using Sdl-Pcr
  • Methods For Non-Invasive Prenatal Ploidy Calling
  • Methods And Compositions Involving Microrna
  • Compositions And Methods For Identifying Nucleic Acid Molecules
  • Non-Invasive Diagnosis Of Graft Rejection In Organ Transplant Patients
  • Methods And Compositions Involving Microrna
  • Cell Free Dna Diagnostic Testing Standards
  • Use Of Mass Labelled Probes To Detect Target Nucleic Acids Using Mass Spectrometry
  • Multiplex Nucleic Acid Detection
  • A Method To Determine Single Nucleotide Polymorphisms And Mutations In Nucleic Acid Sequence
  • Polynucleotide And Use Thereof
  • Recombinant Fusion Proteins And Libraries From Immune Cell Repertoires
  • System, Method, And Computer Software Product For Genotype Determination Using Probe Array Data
  • System And Method For Cleaning Noisy Genetic Data From Target Individuals Using Genetic Data From Genetically Related Individuals
  • Assays For Affinity Profiling Of Nucleic Acid Binding Proteins
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Single-Particle Analysis Of Particle Populations
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Analysis Using Microfluidic Partitioning Devices
  • Compositions And Methods Related To Mirna Modulation Of Neovascularization Or Angiogenesis
  • Genotyping
  • Methods And Compositions Involving Microrna
  • Methods And Compositions For Evaluating Genetic Markers
  • Methods And Compositions For Detecting Genetic Material
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Method Of Detecting Nucleotide Sequence With An Intramolecular Probe
  • Polynucleotide Synthesis And Labeling By Kinetic Sampling Ligation
  • System And Method For Cleaning Noisy Genetic Data And Determining Chromosome Copy Number
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Method And System For Detection Of An Organism
  • Assay Systems For Genetic Analysis
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • System, Method, And Computer Software Product For Genotype Determination Using Probe Array Data
  • Compositions And Methods Related To Mirna Modulation Of Neovascularization Or Angiogenesis
  • Ola-Based Methods For The Detection Of Target Nucleic Avid Sequences
  • Polynucleotide Synthesis And Labeling By Kinetic Sampling Ligation
  • Recombinant Fusion Proteins And Libraries From Immune Cell Repertoires
  • Screening For Structural Variants
  • System And Methods For Enhancing Signal-To-Noise Ratios Of Microarray-Based Measurements
  • Micrornas Differentially Expressed In Cervical Cancer And Uses Thereof
  • Detection Of Target Nucleic Acids Using Hybridization
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Methods For Synthesizing Pools Of Probes
  • Parallel Proximity Ligation Event Analysis
  • Method For Detecting A Circularized Dna, And Use Of Said Method For Detecting Mutations
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Method And Compositions Involving Microrna
  • Methods For Non-Invasive Prenatal Ploidy Calling
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Method And Kits For Multiplex Hybridization Assays
  • Selective Enrichment Of Nucleic Acids
  • Recombinant Fusion Proteins And Libraries From Immune Cell Repertoires
  • Methods And Compositions Involving Mirna And Mirna Inhibitor Molecules
  • Regulation Analysis By Cis Reactivity, Racr
  • Method And Markers For Determining The Genotype Of Horned/Polled Cattle
  • Mir-124 Regulated Genes And Pathways As Targets For Therapeutic Intervention
  • Analysis Methods
  • Genotyping Of N Loci In A Target Nucleic Acid Molecule
  • Method And System For Detection Of An Organism
  • Variant Database
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nbt821

    DOI

    http://dx.doi.org/10.1038/nbt821

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1008728252

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/12730666


    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/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "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": "Cells, Cultured", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human, Pair 6", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Mutational Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Expressed Sequence Tags", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Profiling", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Molecular Probe Techniques", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Oligonucleotide Array Sequence Analysis", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymerase Chain Reaction", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polymorphism, Single Nucleotide", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Quality Control", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Lucile Packard Children's Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414123.1", 
              "name": [
                "Stanford Genome Technology Center, Stanford University, 855 California Avenue, Palo Alto, California 94304, USA."
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hardenbol", 
            "givenName": "Paul", 
            "id": "sg:person.0706603111.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706603111.60"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Ban\u00e9r", 
            "givenName": "Johan", 
            "id": "sg:person.01244044367.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244044367.76"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Jain", 
            "givenName": "Maneesh", 
            "id": "sg:person.01334553527.35", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01334553527.35"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Nilsson", 
            "givenName": "Mats", 
            "id": "sg:person.01012704623.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012704623.44"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Namsaraev", 
            "givenName": "Eugeni A", 
            "id": "sg:person.0717762364.20", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717762364.20"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Karlin-Neumann", 
            "givenName": "George A", 
            "id": "sg:person.0600176140.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600176140.86"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Fakhrai-Rad", 
            "givenName": "Hossein", 
            "id": "sg:person.01006740563.96", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006740563.96"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Ronaghi", 
            "givenName": "Mostafa", 
            "id": "sg:person.01314712673.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314712673.61"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Willis", 
            "givenName": "Thomas D", 
            "id": "sg:person.01115532262.00", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115532262.00"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Landegren", 
            "givenName": "Ulf", 
            "id": "sg:person.01220340607.19", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220340607.19"
            ], 
            "type": "Person"
          }, 
          {
            "familyName": "Davis", 
            "givenName": "Ronald W", 
            "id": "sg:person.015333701302.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015333701302.31"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/35103535", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000470051", 
              "https://doi.org/10.1038/35103535"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35103535", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000470051", 
              "https://doi.org/10.1038/35103535"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1296-450", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002428346", 
              "https://doi.org/10.1038/ng1296-450"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/90290", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002990558", 
              "https://doi.org/10.1038/90290"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/90290", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002990558", 
              "https://doi.org/10.1038/90290"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/90290", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002990558", 
              "https://doi.org/10.1038/90290"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt1296-1675", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005458398", 
              "https://doi.org/10.1038/nbt1296-1675"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/898", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011027937", 
              "https://doi.org/10.1038/898"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/898", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011027937", 
              "https://doi.org/10.1038/898"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/26.22.5073", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022593533"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0378-1119(98)00113-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026668380"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1128/cmr.13.4.559-570.2000", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030170574"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/7044", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030550270", 
              "https://doi.org/10.1038/7044"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/7044", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030550270", 
              "https://doi.org/10.1038/7044"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.10.6.853", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036115098"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.10073", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039490932"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.10078", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040927563"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/81677", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041592515", 
              "https://doi.org/10.1038/81677"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/81677", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041592515", 
              "https://doi.org/10.1038/81677"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2164-2-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042510833", 
              "https://doi.org/10.1186/1471-2164-2-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/23.4.675", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042643306"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/28.12.e58", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049604600"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.11.1.3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1060407391"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1065573", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062445519"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.270.5235.467", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062551475"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.3413476", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062613076"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.7522346", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062647427"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1128/cmr.13.4.559", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1107731586"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2003-06", 
        "datePublishedReg": "2003-06-01", 
        "description": "We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/nbt821", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2384773", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1115214", 
            "issn": [
              "1087-0156", 
              "1546-1696"
            ], 
            "name": "Nature Biotechnology", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "6", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "21"
          }
        ], 
        "name": "Multiplexed genotyping with sequence-tagged molecular inversion\n\t\tprobes", 
        "pagination": "673-678", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "29959c9f85b79e129aced2eb3663f9d2f289abdb8ccef086ab00483d5d3c784e"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "12730666"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "9604648"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/nbt821"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1008728252"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/nbt821", 
          "https://app.dimensions.ai/details/publication/pub.1008728252"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T12:25", 
        "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/v90/0000000362_0000000362/records_87109_00000000.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://www.nature.com/nbt/journal/v21/n6/full/nbt821.html"
      }
    ]
     

    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.10.1038/nbt821'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/nbt821'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nbt821'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nbt821'


     

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

    257 TRIPLES      21 PREDICATES      64 URIs      34 LITERALS      22 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/nbt821 schema:about N09eed18aeb354db0b46080417521090c
    2 N157d8253a4d9476ab2dd3157a4079eda
    3 N18a54d9960f447d08d9cb2efbc2b3c77
    4 N25ecd63753924b0c99a685a5e5331795
    5 N2f95a0deb95c408688f6026f83c75d6a
    6 N30b1e9d24a4b4694b6da77f786a26002
    7 N475dd6b1e3c84c639079869b0a458a21
    8 N495dde912669407d85272a81e61363c4
    9 N5d8c76477abf4c8580cfa69c68f951a0
    10 N84d27393ca73469393efe1f0939c2a7c
    11 Na4a63efbd83a431482676dad9ce12018
    12 Nc44706871e8140dbb749f953a31b163e
    13 Nec90d05c9ebc411b9e4583a8f1b8061c
    14 anzsrc-for:06
    15 anzsrc-for:0604
    16 schema:author N62414dc6259f420da5381016317ea690
    17 schema:citation sg:pub.10.1038/35103535
    18 sg:pub.10.1038/7044
    19 sg:pub.10.1038/81677
    20 sg:pub.10.1038/898
    21 sg:pub.10.1038/90290
    22 sg:pub.10.1038/nbt1296-1675
    23 sg:pub.10.1038/ng1296-450
    24 sg:pub.10.1186/1471-2164-2-4
    25 https://doi.org/10.1002/humu.10073
    26 https://doi.org/10.1002/humu.10078
    27 https://doi.org/10.1016/s0378-1119(98)00113-9
    28 https://doi.org/10.1093/nar/23.4.675
    29 https://doi.org/10.1093/nar/26.22.5073
    30 https://doi.org/10.1093/nar/28.12.e58
    31 https://doi.org/10.1101/gr.10.6.853
    32 https://doi.org/10.1101/gr.11.1.3
    33 https://doi.org/10.1126/science.1065573
    34 https://doi.org/10.1126/science.270.5235.467
    35 https://doi.org/10.1126/science.3413476
    36 https://doi.org/10.1126/science.7522346
    37 https://doi.org/10.1128/cmr.13.4.559
    38 https://doi.org/10.1128/cmr.13.4.559-570.2000
    39 schema:datePublished 2003-06
    40 schema:datePublishedReg 2003-06-01
    41 schema:description We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing.
    42 schema:genre research_article
    43 schema:inLanguage en
    44 schema:isAccessibleForFree false
    45 schema:isPartOf N05815130130941ed8b68baadad8221c2
    46 N63dca73e80a344cc86e9824a66495b13
    47 sg:journal.1115214
    48 schema:name Multiplexed genotyping with sequence-tagged molecular inversion probes
    49 schema:pagination 673-678
    50 schema:productId N3157714d44f74b33ab704acf00f8df1c
    51 N5a27c2212bce4d2987e622347de3e634
    52 N67d500933c9d43dead94a8b086937870
    53 N846918ec49ad42d08abac5a2ad219151
    54 Nde8ea513a1d94c458f981a117071b429
    55 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008728252
    56 https://doi.org/10.1038/nbt821
    57 schema:sdDatePublished 2019-04-11T12:25
    58 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    59 schema:sdPublisher Ndbee63eb0bda437784f05db92ece7f5a
    60 schema:url http://www.nature.com/nbt/journal/v21/n6/full/nbt821.html
    61 sgo:license sg:explorer/license/
    62 sgo:sdDataset articles
    63 rdf:type schema:ScholarlyArticle
    64 N05815130130941ed8b68baadad8221c2 schema:volumeNumber 21
    65 rdf:type schema:PublicationVolume
    66 N082d137213da47a0a130828a7a9e7a8a rdf:first sg:person.01220340607.19
    67 rdf:rest N8feb7c30830b4245bbcb0b92df8038bf
    68 N09eed18aeb354db0b46080417521090c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    69 schema:name Quality Control
    70 rdf:type schema:DefinedTerm
    71 N157d8253a4d9476ab2dd3157a4079eda schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    72 schema:name Gene Expression Profiling
    73 rdf:type schema:DefinedTerm
    74 N18a54d9960f447d08d9cb2efbc2b3c77 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    75 schema:name Chromosomes, Human, Pair 6
    76 rdf:type schema:DefinedTerm
    77 N25ecd63753924b0c99a685a5e5331795 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    78 schema:name DNA Mutational Analysis
    79 rdf:type schema:DefinedTerm
    80 N2f95a0deb95c408688f6026f83c75d6a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    81 schema:name Genotype
    82 rdf:type schema:DefinedTerm
    83 N30b1e9d24a4b4694b6da77f786a26002 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    84 schema:name Expressed Sequence Tags
    85 rdf:type schema:DefinedTerm
    86 N3157714d44f74b33ab704acf00f8df1c schema:name doi
    87 schema:value 10.1038/nbt821
    88 rdf:type schema:PropertyValue
    89 N3bc6f24f7aa244e999536bcdc48aa73e rdf:first sg:person.01012704623.44
    90 rdf:rest Nf81794e40d3e4b1b8f8056b440c4b949
    91 N475dd6b1e3c84c639079869b0a458a21 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    92 schema:name Molecular Probe Techniques
    93 rdf:type schema:DefinedTerm
    94 N495dde912669407d85272a81e61363c4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    95 schema:name Polymerase Chain Reaction
    96 rdf:type schema:DefinedTerm
    97 N5a27c2212bce4d2987e622347de3e634 schema:name readcube_id
    98 schema:value 29959c9f85b79e129aced2eb3663f9d2f289abdb8ccef086ab00483d5d3c784e
    99 rdf:type schema:PropertyValue
    100 N5d8c76477abf4c8580cfa69c68f951a0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    101 schema:name Polymorphism, Single Nucleotide
    102 rdf:type schema:DefinedTerm
    103 N62414dc6259f420da5381016317ea690 rdf:first sg:person.0706603111.60
    104 rdf:rest Nd3bdd48ae1a84ea29b58997db57bf97d
    105 N63dca73e80a344cc86e9824a66495b13 schema:issueNumber 6
    106 rdf:type schema:PublicationIssue
    107 N67d500933c9d43dead94a8b086937870 schema:name pubmed_id
    108 schema:value 12730666
    109 rdf:type schema:PropertyValue
    110 N846918ec49ad42d08abac5a2ad219151 schema:name dimensions_id
    111 schema:value pub.1008728252
    112 rdf:type schema:PropertyValue
    113 N84d27393ca73469393efe1f0939c2a7c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    114 schema:name Cells, Cultured
    115 rdf:type schema:DefinedTerm
    116 N8bd7eb4198874c8db2e1ae25f8542025 rdf:first sg:person.01006740563.96
    117 rdf:rest Nacd60d1121e64e29894ef6a01653a021
    118 N8feb7c30830b4245bbcb0b92df8038bf rdf:first sg:person.015333701302.31
    119 rdf:rest rdf:nil
    120 Na4a63efbd83a431482676dad9ce12018 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    121 schema:name Oligonucleotide Array Sequence Analysis
    122 rdf:type schema:DefinedTerm
    123 Nacd60d1121e64e29894ef6a01653a021 rdf:first sg:person.01314712673.61
    124 rdf:rest Nbef95c12715140daa8fa7b7fe03aa700
    125 Nb6342b96114f4e52bbd12b834e715e9a rdf:first sg:person.0600176140.86
    126 rdf:rest N8bd7eb4198874c8db2e1ae25f8542025
    127 Nbef95c12715140daa8fa7b7fe03aa700 rdf:first sg:person.01115532262.00
    128 rdf:rest N082d137213da47a0a130828a7a9e7a8a
    129 Nc44706871e8140dbb749f953a31b163e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Sequence Analysis, DNA
    131 rdf:type schema:DefinedTerm
    132 Ncc01b4a1c3d64d54a9a469507d53beb9 rdf:first sg:person.01334553527.35
    133 rdf:rest N3bc6f24f7aa244e999536bcdc48aa73e
    134 Nd3bdd48ae1a84ea29b58997db57bf97d rdf:first sg:person.01244044367.76
    135 rdf:rest Ncc01b4a1c3d64d54a9a469507d53beb9
    136 Ndbee63eb0bda437784f05db92ece7f5a schema:name Springer Nature - SN SciGraph project
    137 rdf:type schema:Organization
    138 Nde8ea513a1d94c458f981a117071b429 schema:name nlm_unique_id
    139 schema:value 9604648
    140 rdf:type schema:PropertyValue
    141 Nec90d05c9ebc411b9e4583a8f1b8061c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name Humans
    143 rdf:type schema:DefinedTerm
    144 Nf81794e40d3e4b1b8f8056b440c4b949 rdf:first sg:person.0717762364.20
    145 rdf:rest Nb6342b96114f4e52bbd12b834e715e9a
    146 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    147 schema:name Biological Sciences
    148 rdf:type schema:DefinedTerm
    149 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    150 schema:name Genetics
    151 rdf:type schema:DefinedTerm
    152 sg:grant.2384773 http://pending.schema.org/fundedItem sg:pub.10.1038/nbt821
    153 rdf:type schema:MonetaryGrant
    154 sg:journal.1115214 schema:issn 1087-0156
    155 1546-1696
    156 schema:name Nature Biotechnology
    157 rdf:type schema:Periodical
    158 sg:person.01006740563.96 schema:familyName Fakhrai-Rad
    159 schema:givenName Hossein
    160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006740563.96
    161 rdf:type schema:Person
    162 sg:person.01012704623.44 schema:familyName Nilsson
    163 schema:givenName Mats
    164 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012704623.44
    165 rdf:type schema:Person
    166 sg:person.01115532262.00 schema:familyName Willis
    167 schema:givenName Thomas D
    168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115532262.00
    169 rdf:type schema:Person
    170 sg:person.01220340607.19 schema:familyName Landegren
    171 schema:givenName Ulf
    172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220340607.19
    173 rdf:type schema:Person
    174 sg:person.01244044367.76 schema:familyName Banér
    175 schema:givenName Johan
    176 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244044367.76
    177 rdf:type schema:Person
    178 sg:person.01314712673.61 schema:familyName Ronaghi
    179 schema:givenName Mostafa
    180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314712673.61
    181 rdf:type schema:Person
    182 sg:person.01334553527.35 schema:familyName Jain
    183 schema:givenName Maneesh
    184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01334553527.35
    185 rdf:type schema:Person
    186 sg:person.015333701302.31 schema:familyName Davis
    187 schema:givenName Ronald W
    188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015333701302.31
    189 rdf:type schema:Person
    190 sg:person.0600176140.86 schema:familyName Karlin-Neumann
    191 schema:givenName George A
    192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600176140.86
    193 rdf:type schema:Person
    194 sg:person.0706603111.60 schema:affiliation https://www.grid.ac/institutes/grid.414123.1
    195 schema:familyName Hardenbol
    196 schema:givenName Paul
    197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706603111.60
    198 rdf:type schema:Person
    199 sg:person.0717762364.20 schema:familyName Namsaraev
    200 schema:givenName Eugeni A
    201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717762364.20
    202 rdf:type schema:Person
    203 sg:pub.10.1038/35103535 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000470051
    204 https://doi.org/10.1038/35103535
    205 rdf:type schema:CreativeWork
    206 sg:pub.10.1038/7044 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030550270
    207 https://doi.org/10.1038/7044
    208 rdf:type schema:CreativeWork
    209 sg:pub.10.1038/81677 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041592515
    210 https://doi.org/10.1038/81677
    211 rdf:type schema:CreativeWork
    212 sg:pub.10.1038/898 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011027937
    213 https://doi.org/10.1038/898
    214 rdf:type schema:CreativeWork
    215 sg:pub.10.1038/90290 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002990558
    216 https://doi.org/10.1038/90290
    217 rdf:type schema:CreativeWork
    218 sg:pub.10.1038/nbt1296-1675 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005458398
    219 https://doi.org/10.1038/nbt1296-1675
    220 rdf:type schema:CreativeWork
    221 sg:pub.10.1038/ng1296-450 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002428346
    222 https://doi.org/10.1038/ng1296-450
    223 rdf:type schema:CreativeWork
    224 sg:pub.10.1186/1471-2164-2-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042510833
    225 https://doi.org/10.1186/1471-2164-2-4
    226 rdf:type schema:CreativeWork
    227 https://doi.org/10.1002/humu.10073 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039490932
    228 rdf:type schema:CreativeWork
    229 https://doi.org/10.1002/humu.10078 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040927563
    230 rdf:type schema:CreativeWork
    231 https://doi.org/10.1016/s0378-1119(98)00113-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026668380
    232 rdf:type schema:CreativeWork
    233 https://doi.org/10.1093/nar/23.4.675 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042643306
    234 rdf:type schema:CreativeWork
    235 https://doi.org/10.1093/nar/26.22.5073 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022593533
    236 rdf:type schema:CreativeWork
    237 https://doi.org/10.1093/nar/28.12.e58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049604600
    238 rdf:type schema:CreativeWork
    239 https://doi.org/10.1101/gr.10.6.853 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036115098
    240 rdf:type schema:CreativeWork
    241 https://doi.org/10.1101/gr.11.1.3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1060407391
    242 rdf:type schema:CreativeWork
    243 https://doi.org/10.1126/science.1065573 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062445519
    244 rdf:type schema:CreativeWork
    245 https://doi.org/10.1126/science.270.5235.467 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062551475
    246 rdf:type schema:CreativeWork
    247 https://doi.org/10.1126/science.3413476 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062613076
    248 rdf:type schema:CreativeWork
    249 https://doi.org/10.1126/science.7522346 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062647427
    250 rdf:type schema:CreativeWork
    251 https://doi.org/10.1128/cmr.13.4.559 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107731586
    252 rdf:type schema:CreativeWork
    253 https://doi.org/10.1128/cmr.13.4.559-570.2000 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030170574
    254 rdf:type schema:CreativeWork
    255 https://www.grid.ac/institutes/grid.414123.1 schema:alternateName Lucile Packard Children's Hospital
    256 schema:name Stanford Genome Technology Center, Stanford University, 855 California Avenue, Palo Alto, California 94304, USA.
    257 rdf:type schema:Organization
     




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


    ...