A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects.

ABSTRACT: Compound heterozygous (CH) variants occur when two recessive alleles are inherited and the variants are located at different loci within the same gene in a given individual. CH variants are important contributors to many different types of recessively inherited diseases. However, many studies overlook CH variants because identification of this type of variant requires knowing the parent of origin for each nucleotide. Using computational methods, haplotypes can be inferred using a process called "phasing," which estimates the chromosomal origin of most nucleotides. In this paper, we used germline, phased, whole-genome sequencing (WGS) data to identify CH variants across seven pediatric diseases (adolescent idiopathic scoliosis: n = 16, congenital heart defects: n = 709, disord

SUBMITTER: Miller DB 

PROVIDER: S-EPMC8019969 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature