Abstract
Loss of heterozygosity (LOH) is a genetic alteration that results from the loss of one allele at a heterozygous locus. This phenomenon can serve as a crucial source of genome diversity and is associated with diseases such as cancer. We investigated the frequency, genomic distribution, and inheritance pattern of LOH using whole-genome sequencing data of the three-generation CEPH/Utah family cohort, with the pedigree consisting of grandparents, parents, and offspring. We identified an average of 40.7 LOH events per individual and observed that 65% of them, on average, were transmitted to offspring because of gonosomal mosaicism. Moreover, we revealed that the occurrence of LOH was affected by the inter-homolog distances, which reflect the chromosome territory. Our findings pertaining to LOH provide insight into the pathogenesis of hereditary cancer, as illustrated by the Two-Hit Hypothesis.
Competing Interest Statement
The authors have declared no competing interest.