Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

ABSTRACT:

Background

Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. UPD may result in clinical phenotypes when occurring on chromosomes with specific imprinting pattern, when leading to homozygosity of a deleterious recessive allele inherited from one carrier parent, or when associated with a mosaic aneuploidy. Due to the importance of UPD in genetic disease etiology, UPD analysis has started to be implemented in the context of exome sequencing (ES) or genome sequencing.

Methods

We developed an in-house algorithm TRIPS (Trio Parentage/UPD Studies) to identify UPD events in trio ES cases. This method identifies regions with uniparental inheritance by utilizing the trio genotyping data obtained from the concurrent SNP array to delineate t

SUBMITTER: Wang L 

PROVIDER: S-EPMC8606208 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature