TY - JOUR T1 - Ethnically relevant consensus Korean reference genome towards personal reference genomes JF - bioRxiv DO - 10.1101/070805 SP - 070805 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 Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/09/06/070805.abstract N2 - 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. ER -