Science and Research

Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor

Targeted tumor only sequencing has become a standard practice in cancer diagnostics. This study aims to develop an approach for robust copy number variant 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 and large-scale state transition scores without the need for loss of heterozygosity information. We demonstrated a strong correlation between HRD score and the sum of telomeric-allelic imbalance + large-scale state transition in The Cancer Genome Atlas cohort (

  • Ball, M.
  • Ourailidis, I.
  • Kluck, K.
  • Menzel, M.
  • Kirchner, M.
  • Allgäuer, M.
  • Yong Tay, T. K.
  • Schnecko, F.
  • Volckmar, A. L.
  • Goldschmid, H.
  • Neuman, O.
  • Fröhling, S.
  • Schirmacher, P.
  • Budczies, J.
  • Stenzinger, A.
  • Kazdal, D.
Publication details
DOI: 10.1016/j.jmoldx.2024.02.008
Journal: J Mol Diagn
Work Type: Original
Location: TLRC
Disease Area: LC
Partner / Member: UKHD
Access-Number: 38522840

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