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

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.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2016-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms13637
Description
Summary: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.
ISSN:2041-1723