Uniparental disomy in a population of 32,067 clinical exome trios.

ABSTRACT:

Purpose

Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.

Methods

We analyzed 32,067 ES trios referred for diagnostic testing to create a profile of UPD events and their disease associations. ES single-nucleotide polymorphism (SNP) and copy-number data were used to identify both whole-chromosome and segmental UPD and to categorize whole-chromosome results as isodisomy, heterodisomy, or mixed.

Results

Ninety-nine whole-chromosome and 13 segmental UPD events were identified. Of these, 29 were associated with an imprinting disorder, and 16 were associated with a positive test result through homozygous

SUBMITTER: Scuffins J 

PROVIDER: S-EPMC8187148 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature