Assembly and diploid architecture of an individual human genome via single-molecule technologies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-08

AUTHORS

Matthew Pendleton, Robert Sebra, Andy Wing Chun Pang, Ajay Ummat, Oscar Franzen, Tobias Rausch, Adrian M Stütz, William Stedman, Thomas Anantharaman, Alex Hastie, Heng Dai, Markus Hsi-Yang Fritz, Han Cao, Ariella Cohain, Gintaras Deikus, Russell E Durrett, Scott C Blanchard, Roger Altman, Chen-Shan Chin, Yan Guo, Ellen E Paxinos, Jan O Korbel, Robert B Darnell, W Richard McCombie, Pui-Yan Kwok, Christopher E Mason, Eric E Schadt, Ali Bashir

ABSTRACT

We present the first comprehensive analysis of a diploid human genome that combines single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly improves upon the contiguity observed from traditional shotgun sequencing approaches, with scaffold N50 values approaching 30 Mb, and we identified complex structural variants (SVs) missed by other high-throughput approaches. Furthermore, by combining Illumina short-read data with long reads, we phased both single-nucleotide variants and SVs, generating haplotypes with over 99% consistency with previous trio-based studies. Our work shows that it is now possible to integrate single-molecule and high-throughput sequence data to generate de novo assembled genomes that approach reference quality. More... »

PAGES

780-786

References to SciGraph publications

  • 2001-02. Initial sequencing and analysis of the human genome in NATURE
  • 2013-06. Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data in NATURE METHODS
  • 2012-07. A hybrid approach for the automated finishing of bacterial genomes in NATURE BIOTECHNOLOGY
  • 2013-05. Characterizing and measuring bias in sequence data in GENOME BIOLOGY
  • 2014-03. Whole-genome haplotyping using long reads and statistical methods in NATURE BIOTECHNOLOGY
  • 2014-12. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability in NATURE GENETICS
  • 2015-01. Resolving the complexity of the human genome using single-molecule sequencing in NATURE
  • 2012-07. Hybrid error correction and de novo assembly of single-molecule sequencing reads in NATURE BIOTECHNOLOGY
  • 2011-02-03. Mapping copy number variation by population-scale genome sequencing in NATURE
  • 2012-12. AGORA: Assembly Guided by Optical Restriction Alignment in BMC BIOINFORMATICS
  • 2014-03. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls in NATURE BIOTECHNOLOGY
  • 2004-12. Genome-wide analysis of the human Alu Yb-lineage in HUMAN GENOMICS
  • 2012-08. Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly in NATURE BIOTECHNOLOGY
  • 2012-12. Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory in BMC BIOINFORMATICS
  • 2012-12. Pacific biosciences sequencing technology for genotyping and variation discovery in human data in BMC GENOMICS
  • 2014-12. PBHoney: identifying genomic variants via long-read discordance and interrupted mapping in BMC BIOINFORMATICS
  • 2008-12. Mechanisms for human genomic rearrangements in PATHOGENETICS
  • 2010-10-28. A map of human genome variation from population-scale sequencing in NATURE
  • 2009-10. ALLPATHS 2: small genomes assembled accurately and with high continuity from short paired reads in GENOME BIOLOGY
  • 2005-07. Fine-scale structural variation of the human genome in NATURE GENETICS
  • 2004-10. Finishing the euchromatic sequence of the human genome in NATURE
  • 2012-01. Performance comparison of whole-genome sequencing platforms in NATURE BIOTECHNOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nmeth.3454

    DOI

    http://dx.doi.org/10.1038/nmeth.3454

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1013577548

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26121404


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