Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

ABSTRACT:

Purpose

One of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for identifying the regions likely to contain the causative variant.

Methods

We use 179 homozygous pathogenic variants from three independent cohorts to investigate the predictive power of homozygosity mapping.

Results

We demonstrate that homozygous pathogenic variants in our cohorts are disproportionately likely to be found within one of the largest regions of homozygosity: 80% of pathogenic variants are found in a homozygous region that is in the ten largest regions in a sample. The maximal predictive power is achie

SUBMITTER: Wakeling MN 

PROVIDER: S-EPMC6330071 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature