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

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

Nature Methods（2015）

Cited 478|Views53
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Abstract
combination of single-molecule long-read sequencing, single-molecule genome mapping and short-read sequencing provides reference-quality de novo assemblies and also shows improved phasing and variant detection over short-read assemblies when mapping to a reference genome.
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Key words
Structural variation, Genomics, Genome informatics, Genome assembly algorithms
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