P621: Detection and classification of uniparental disomy from clinical whole-exome data using the GermVar pipeline
Abstract
Uniparental disomy (UPD) can cause disease through imprinting disorders or by unmasking autosomal recessive variants. Detection of UPD from clinical sequencing data is therefore clinically relevant, but remains challenging in singleton exome sequencing (ES) because heterodisomy (UPhD) cannot be detected without parental genotypes, and long runs of homozygosity (ROH) may reflect identity-by-descent (IBD) rather than UPD. We implemented ROH-based UPD detection in GermVar, a germline variant pipeline developed at SeqOne, and evaluated its performance and limitations on curated clinical cases.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetic Syndromes and Imprinting
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104111–104111
- Publication date
- 1 January 2026
- Language
- EN