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

ABSTRACT: Human genomes are routinely compared against a universal reference. However, this strategy could miss population-specific and personal genomic variations, which may be detected more efficiently using an ethnically relevant or personal reference. Here we report a hybrid assembly of a Korean reference genome (KOREF) for constructing personal and ethnic references by combining sequencing and mapping methods. We also build its consensus variome reference, providing information on millions of variants from 40 additional ethnically homogeneous genomes from the Korean Personal Genome Project. We find that the ethnically relevant consensus reference can be beneficial for efficient variant detection. Systematic comparison of human assemblies shows the importance of assembly quality, suggesting the

SUBMITTER: Cho YS 

PROVIDER: S-EPMC5123046 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature