Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios.

ABSTRACT:

Background

The adaptive immune response intrinsically depends on hypervariable human leukocyte antigen (HLA) genes. Concomitantly, correct HLA phenotyping is crucial for successful donor-patient matching in organ transplantation. The cost and technical limitations of current laboratory techniques, together with advances in next-generation sequencing (NGS) methodologies, have increased the need for precise computational typing methods.

Results

We tested two widespread HLA typing methods using high quality full genome sequencing data from 150 individuals in 50 family trios from the Genome Denmark project. First, we computed descendant accuracies assessing the agreement in the inheritance of alleles from parents to offspring. Second, we compared the locus-specific homozygosity

SUBMITTER: Matey-Hernandez ML 

PROVIDER: S-EPMC6019707 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature