Assembly and diploid architecture of an individual human genome via single-molecule technologies.
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ABSTRACT:
SUBMITTER: Pendleton M
PROVIDER: S-EPMC4646949 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Publications
Assembly and diploid architecture of an individual human genome via single-molecule technologies.
Pendleton Matthew M Sebra Robert R Pang Andy Wing Chun AW Ummat Ajay A Franzen Oscar O Rausch Tobias T Stütz Adrian M AM Stedman William W Anantharaman Thomas T Hastie Alex A Dai Heng H Fritz Markus Hsi-Yang MH Cao Han H Cohain Ariella A Deikus Gintaras G Durrett Russell E RE Blanchard Scott C SC Altman Roger R Chin Chen-Shan CS Guo Yan Y Paxinos Ellen E EE Korbel Jan O JO Darnell Robert B RB McCombie W Richard WR Kwok Pui-Yan PY Mason Christopher E CE Schadt Eric E EE Bashir Ali A
Nature methods 20150629 8
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 ...[more]
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