Article
De novo assembly and phasing of a Korean human genome.
Nature - 13 Oct 2016
Seo Jeong-Sun, Rhie Arang, Kim Junsoo, Lee Sangjin, Sohn Min-Hwan, Kim Chang-Uk, Hastie Alex, Cao Han, Yun Ji-Young, Kim Jihye, Kuk Junho, Park Gun Hwa, Kim Juhyeok, Ryu Hanna, Kim Jongbum, Roh Mira, Baek Jeonghun, Hunkapiller Michael W, Korlach Jonas, Shin Jong-Yeon, Kim Changhoon
Abstract excerpt
Advances in genome assembly and phasing provide an opportunity to investigate the diploid architecture of the human genome and reveal the full range of structural variation across population groups. Here we report the de novo assembly and haplotype phasing of the Korean individual AK1 (ref. 1) using single-molecule real-time sequencing, next-generation mapping, microfluidics-based linked reads, and bacterial...
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