De novo assembly and phasing of a Korean human genome

Jeong-Sun Seo (), Arang Rhie, Junsoo Kim, Sangjin Lee, Min-Hwan Sohn, Chang-Uk Kim, Alex Hastie, Han Cao, Ji-Young Yun, Jihye Kim, Junho Kuk, Gun Hwa Park, Juhyeok Kim, Hanna Ryu, Jongbum Kim, Mira Roh, Jeonghun Baek, Michael W. Hunkapiller, Jonas Korlach, Jong-Yeon Shin and Changhoon Kim ()
Additional contact information
Jeong-Sun Seo: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Arang Rhie: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Junsoo Kim: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Sangjin Lee: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Min-Hwan Sohn: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Chang-Uk Kim: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Alex Hastie: BioNano Genomics, San Diego
Han Cao: BioNano Genomics, San Diego
Ji-Young Yun: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Jihye Kim: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Junho Kuk: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Gun Hwa Park: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Juhyeok Kim: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Hanna Ryu: Bioinformatics Institute, Macrogen Inc.
Jongbum Kim: Bioinformatics Institute, Macrogen Inc.
Mira Roh: Bioinformatics Institute, Macrogen Inc.
Jeonghun Baek: Bioinformatics Institute, Macrogen Inc.
Michael W. Hunkapiller: Pacific Biosciences of California, Inc.
Jonas Korlach: Pacific Biosciences of California, Inc.
Jong-Yeon Shin: Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University
Changhoon Kim: Bioinformatics Institute, Macrogen Inc.

Nature, 2016, vol. 538, issue 7624, 243-247

Abstract: De novo assembly and phasing of the genome of an individual from Korea using a combination of different sequencing approaches provides a useful population-specific reference genome and represents the most contiguous human genome assembly so far.

Date: 2016
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DOI: 10.1038/nature20098

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