An integrated Asian human SNV and indel benchmark established using multiple sequencing methods.

ABSTRACT: Sequencing technologies have been rapidly developed recently, leading to the breakthrough of sequencing-based clinical diagnosis, but accurate and complete genome variation benchmark would be required for further assessment of precision medicine applications. Despite the human cell line of NA12878 has been successfully developed to be a variation benchmark, population-specific variation benchmark is still lacking. Here, we established an Asian human variation benchmark by constructing and sequencing a stabilized cell line of a Chinese Han volunteer. By using seven different sequencing strategies, we obtained ~3.88 Tb clean data from different laboratories, hoping to reach the point of high sequencing depth and accurate variation detection. Through the combination of variations identified f

SUBMITTER: Huang C 

PROVIDER: S-EPMC7300012 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature