Whole exome sequencing provides Loss of Heterozygosity (LoH) data comparable to that of Whole Genome Sequencing


Elizabeth Evans1, Jhalak Dholakia1, Jim Abraham2, Jian Zhang2, Matt Oberley2, Premal Thacker3, Thomas Herzog4, David Spetzler2, Rebecca C. Arend1


  • Genomic scars assay measured by SNP (single nucleotide polymorphisms)-based tests are increasingly used clinically to identify patients more likely to benefit from PARP inhibitors (PARPi) in ovarian cancer.
  • We aim to leverage the extensive SNP coverage built into a WES platform to accurately measure genomic loss of heterozygosity (LOH) and homologous recombination deficiency (HRD).
  • We assessed the validity of WES compared to the whole genome sequencing (WGS) in identifying LOH.
  • HRD was correlated with clinical outcome in PARPi-treated ovarian cancer patients.
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