HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.

ABSTRACT: In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down. In autosomal recessive families, disease usually occurs only in one generation so that genetic linkage analysis is unlikely to help. Because homozygous recessive mutations tend to be inherited together with flanking homozygous variants, we developed a statistical method to detect pathogenic variants in autosomal recessive families: We look for differences in patterns of homozygosity around candidate variants between patients and control individuals and expect that such differences are greater for pathogenic variants than random candidate variants. In six autosomal recessive mitochondrial disease families, in which pa

SUBMITTER: Imai A 

PROVIDER: S-EPMC5411490 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature