RT Journal Article
SR Electronic
T1 Ethnically relevant consensus Korean reference genome towards personal reference genomes
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 070805
DO 10.1101/070805
A1 Yun Sung Cho
A1 Hyunho Kim
A1 Hak-Min Kim
A1 Sungwoong Jho
A1 JeHoon Jun
A1 Yong Joo Lee
A1 Kyun Shik Chae
A1 Chang Geun Kim
A1 Sangsoo Kim
A1 Anders Eriksson
A1 Jeremy S. Edwards
A1 Semin Lee
A1 Byung Chul Kim
A1 Andrea Manica
A1 George M. Church
A1 Jong Bhak
YR 2016
UL http://biorxiv.org/content/early/2016/09/06/070805.abstract
AB Human genomes are routinely compared against a universal reference. However, this strategy could miss population-specific or personal genomic variations, which may be detected more efficiently using an ethnically-relevant and/or a personal reference. Here we report a hybrid assembly of Korean reference (KOREF) as a pilot case for constructing personal and ethnic references by combining sequencing and mapping methods. KOREF is also the first consensus variome reference, providing information on millions of variants from additional ethnically homogeneous personal genomes. We found that this ethnically-relevant consensus reference was beneficial for efficiently detecting variants. Systematic comparison of KOREF with previously established human assemblies showed the importance of assembly quality, suggesting the necessity of using new technologies to comprehensively map ethnic and personal genomic structure variations. In the era of large-scale population genome projects, the leveraging of ethnicity-specific genome assemblies as well as the human reference genome will accelerate mapping all human genome diversity.