Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.

ABSTRACT:

Background

Structural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurrent pathogenic CNVs harbor similar breakpoints in multiple unrelated individuals and are primarily formed via non-allelic homologous recombination (NAHR). Several pathogenic NAHR-mediated recurrent CNV loci demonstrate biases for parental origin of de novo CNVs. However, the mechanism underlying these biases is not well understood.

Methods

We performed a systematic, comprehensive literature search to curate parent of origin data for multiple pathogenic CNV loci. Using a regression framework, we assessed the relationship between parental CNV origin and the mal

SUBMITTER: Mosley TJ 

PROVIDER: S-EPMC8190997 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature