Leveraging off-target reads in panel sequencing for homologous recombination repair deficiency screening in tumor

This study aims to develop an approach for robust copy number variant (CNV) calling in tumor samples using only off-target region (OTR) reads. We also established a clinical use case for homologous recombination deficiency (HRD) score estimation (HRDest) using the sum of telomeric allelic imbalance (TAI) and large-scale state transitions (LST) scores without the need for loss of heterozygosity (LOH) information.

Source: Journal of Molecular Diagnostics - March 21, 2024 Category: Pathology Authors: Markus Ball, Iordanis Ourailidis, Klaus Kluck, Michael Menzel, Martina Kirchner, Michael Allg äuer, Timothy Kwang Yong Tay, Fabian Schnecko, Anna-Lena Volckmar, Hannah Goldschmid, Olaf Neuman, Stefan Fröhling, Peter Schirmacher, Jan Budczies, Albrecht S Tags: Regular Article Source Type: research