A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.

ABSTRACT: Exome sequencing of parent-offspring trios is a popular strategy for identifying causative genetic variants in children with rare diseases. This method owes its strength to the leveraging of inheritance information, which facilitates de novo variant calling, inference of compound heterozygosity, and the identification of inheritance anomalies. Uniparental disomy describes the inheritance of a homologous chromosome pair from only one parent. This aberration is important to detect in genetic disease studies because it can result in imprinting disorders and recessive diseases. We have developed a software tool to detect uniparental disomy from child-mother-father genotype data that uses a binomial test to identify chromosomes with a significant burden of uniparentally inherited genotypes. Thi

SUBMITTER: King DA 

PROVIDER: S-EPMC3975066 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature