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

Authors:

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

Background:

  • 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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