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
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spelling doaj-7ade7dd90aad4501a7621d1dc5b2ed0a2021-05-11T11:16:09ZengNature Publishing GroupNature Communications2041-17232016-11-017111310.1038/ncomms13637An ethnically relevant consensus Korean reference genome is a step towards personal reference genomesYun Sung Cho0Hyunho Kim1Hak-Min Kim2Sungwoong Jho3JeHoon Jun4Yong Joo Lee5Kyun Shik Chae6Chang Geun Kim7Sangsoo Kim8Anders Eriksson9Jeremy S. Edwards10Semin Lee11Byung Chul Kim12Andrea Manica13Tae-Kwang Oh14George M. Church15Jong Bhak16The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)Geromics Inc., Ulsan National Institute of Science and Technology (UNIST)The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)Personal Genomics Institute, Genome Research FoundationPersonal Genomics Institute, Genome Research FoundationGeromics Inc., Ulsan National Institute of Science and Technology (UNIST)National Standard Reference Center, Korea Research Institute of Standards and ScienceNational Standard Reference Center, Korea Research Institute of Standards and ScienceSchool of Systems Biomedical Science, Soongsil UniversityDepartment of Zoology, University of CambridgeChemistry and Chemical Biology, UNM Comprehensive Cancer Center, University of New MexicoThe Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)Department of Zoology, University of CambridgeInfection and Immunity Research Center, Korea Research Institute of Bioscience and BiotechnologyDepartment of Genetics, New Research Building (NRB), Harvard Medical SchoolThe Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)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.https://doi.org/10.1038/ncomms13637
collection DOAJ
language English
format Article
sources DOAJ
author 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
spellingShingle 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
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
Nature Communications
author_facet 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
author_sort Yun Sung Cho
title An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
title_short An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
title_full An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
title_fullStr An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
title_full_unstemmed An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
title_sort ethnically relevant consensus korean reference genome is a step towards personal reference genomes
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2016-11-01
description 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.
url https://doi.org/10.1038/ncomms13637
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