DirectHRD enables sensitive scar-based classification of homologous recombination deficiency (HRD)

Liu, R.; Roberts, E.; Parsons, H. A.; Stover, E. H.; Choudhury, A. D.; Rhoades, J.; Blewett, T.; Yang, D. D.; Liu, J. F.; Mayer, E. L.; Adalsteinsson, V. A.

doi:10.1101/2024.06.21.600073

bioRxiv · 10.1101/2024.06.21.600073

DirectHRD enables sensitive scar-based classification of homologous recombination deficiency (HRD)

Liu, R.·Roberts, E.·Parsons, H. A.·Stover, E. H.·Choudhury, A. D.·Rhoades, J.·Blewett, T.·Yang, D. D.·Liu, J. F.·Mayer, E. L.·Adalsteinsson, V. A.

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Abstract

Homologous recombination deficiency (HRD) is a predictive biomarker for efficacy of PARP inhibition and platinum chemotherapy but remains challenging to detect from low tumor fraction samples such as liquid biopsies. Here, we describe DirectHRD, a whole-genome sequencing (WGS) scar-based classifier that is 10x more sensitive than state-of-the-art methods. DirectHRD can detect HRD at >=1% tumor fraction using 50x WGS of cell-free DNA.

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Liu, R., Roberts, E., Parsons, H. A., Stover, E. H., Choudhury, A. D., Rhoades, J., Blewett, T., Yang, D. D., Liu, J. F., Mayer, E. L., Adalsteinsson, V. A.. 2024-06-27. DirectHRD enables sensitive scar-based classification of homologous recombination deficiency (HRD). https://doi.org/10.1101/2024.06.21.600073

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