| Literature DB >> 26121404 |
Matthew Pendleton1, Robert Sebra1, Andy Wing Chun Pang2, Ajay Ummat1, Oscar Franzen1, Tobias Rausch3, Adrian M Stütz3, William Stedman2, Thomas Anantharaman2, Alex Hastie2, Heng Dai2, Markus Hsi-Yang Fritz3, Han Cao2, Ariella Cohain1, Gintaras Deikus1, Russell E Durrett4, Scott C Blanchard5, Roger Altman4, Chen-Shan Chin6, Yan Guo6, Ellen E Paxinos6, Jan O Korbel7, Robert B Darnell8, W Richard McCombie9, Pui-Yan Kwok10, Christopher E Mason11, Eric E Schadt1, Ali Bashir1.
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.Entities:
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Year: 2015 PMID： 26121404 PMCID： PMC4646949 DOI： 10.1038/nmeth.3454
Source DB: PubMed Journal: Nat Methods ISSN： 1548-7091 Impact factor: 28.547