Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.

ABSTRACT: A high-confidence, comprehensive human variant set is critical in assessing accuracy of sequencing algorithms, which are crucial in precision medicine based on high-throughput sequencing. Although recent works have attempted to provide such a resource, they still do not encompass all major types of variants including structural variants (SVs). Thus, we leveraged the massive high-quality Sanger sequences from the HuRef genome to construct by far the most comprehensive gold set of a single individual, which was cross validated with deep Illumina sequencing, population datasets, and well-established algorithms. It was a necessary effort to completely reanalyze the HuRef genome as its previously published variants were mostly reported five years ago, suffering from compatibility, organization,

SUBMITTER: Mu JC 

PROVIDER: S-EPMC4585973 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature