Benchmarking Relatedness Inference Methods with Genome-Wide Data from Thousands of Relatives.

ABSTRACT: Inferring relatedness from genomic data is an essential component of genetic association studies, population genetics, forensics, and genealogy. While numerous methods exist for inferring relatedness, thorough evaluation of these approaches in real data has been lacking. Here, we report an assessment of 12 state-of-the-art pairwise relatedness inference methods using a data set with 2485 individuals contained in several large pedigrees that span up to six generations. We find that all methods have high accuracy (92-99%) when detecting first- and second-degree relationships, but their accuracy dwindles to <43% for seventh-degree relationships. However, most identical by descent (IBD) segment-based methods inferred seventh-degree relatives correct to within one relatedness degree for >76% of

SUBMITTER: Ramstetter MD 

PROVIDER: S-EPMC5586387 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature