PT  - JOURNAL ARTICLE
AU  - Yun Sung Cho
AU  - Hyunho Kim
AU  - Hak-Min Kim
AU  - Sungwoong Jho
AU  - JeHoon Jun
AU  - Yong Joo Lee
AU  - Kyun Shik Chae
AU  - Chang Geun Kim
AU  - Sangsoo Kim
AU  - Anders Eriksson
AU  - Jeremy S. Edwards
AU  - Semin Lee
AU  - Byung Chul Kim
AU  - Andrea Manica
AU  - George M. Church
AU  - Jong Bhak
TI  - Ethnically relevant consensus Korean reference genome towards personal reference genomes
AID  - 10.1101/070805
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 070805
4099  - http://biorxiv.org/content/early/2016/09/06/070805.short
4100  - http://biorxiv.org/content/early/2016/09/06/070805.full
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.