June 2015
Authors:
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
Info:
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.
Citation:
Nature Methods.
DOI:10.1038/nmeth.3454