Assembly and diploid architecture of an individual human genome via single-molecule technologies.

doi:10.1038/nmeth.3454

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Article

Assembly and diploid architecture of an individual human genome via single-molecule technologies.

Nature methods - 1 Aug 2015

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

Abstract excerpt

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...

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PMID: 26121404
DOI: 10.1038/nmeth.3454
PMCID: PMC4646949

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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