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

June 2015

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

Scientists report “the first comprehensive analysis of a diploid human genome” generated by long-read sequencing and single-molecule genome maps. The resulting hybrid assembly dramatically increased contiguity, with scaffold N50s nearly 30 Mb. BluePippin was used to remove DNA fragments shorter than 7 Kb prior to PacBio sequencing.

Nature Methods.

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