3. Application of optical genome mapping to identify samples with homologous recombination deficiency

Certain cancer treatments have been shown to be effective in killing cancer cells exhibiting genome instability signatures indicative of homologous recombination deficiency (HRD). There are three measurements of HRD signatures commonly employed: loss of heterozygosity (HRD-LOH), telomeric allelic imbalance (TAI) and large-scale state transition (LST). Current genomic technologies lack sensitivity to capture the full extent of somatic variants related to HRD and this limits their sensitivity.Here, optical genome mapping (OGM) was used to detect large structural variants (SVs) and calculate a HRD score.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Alex Hastie, Andy Wing Chun Pang, Nikhil Sahajpal, Daniel Saul, Ravindra Kolhe, Alka Chaubey Source Type: research