Nature Communications (Nov 2016)

An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

  • Yun Sung Cho,
  • Hyunho Kim,
  • Hak-Min Kim,
  • Sungwoong Jho,
  • JeHoon Jun,
  • Yong Joo Lee,
  • Kyun Shik Chae,
  • Chang Geun Kim,
  • Sangsoo Kim,
  • Anders Eriksson,
  • Jeremy S. Edwards,
  • Semin Lee,
  • Byung Chul Kim,
  • Andrea Manica,
  • Tae-Kwang Oh,
  • George M. Church,
  • Jong Bhak

DOI
https://doi.org/10.1038/ncomms13637
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 13

Abstract

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The utility of a universal reference sequence for human genome comparisons is dependent on the ethnic origins of the individuals being sequenced. Here the authors report a Korean reference genome and consensus variome, and show that an ethnically-relevant reference can improve variant detection.