Detecting HRD in ovarian cancers using a deep learning solution based on low pass whole-genome sequencing

Deficiency in the homologous recombination repair system represent up to 50% of the ovarian, breast, prostate and pancreatic cancers. While Poly ADP-ribose polymerase inhibitors (PARPi) treatment revolutionized management of patients, inducing synthetic lethality in cells with homologous recombination deficiency (HRD), detection of HRD is challenging. Indeed, homologous recombination repair (HRR) genetic testing do not suffice to determine with certainty HRD status and researchers use the indirect genomic instability score to evaluate genomic scars or mutational signatures resulting from HRD. The implementation of methods able to detect HRD is crucial for the identification of patients who could benefit from treatment with PARPi.

In this webinar, Pr. Harlé will share his experience in HRD detection on ovarian cancers using SOPHiA GENETICS deep learning solution. Therefore, you will have the opportunity to discover:
- Current challenges for the implementation of HRD testing
- The analytical performance evaluation of the Genomic Integrity Index (GII) provided by the SOPHiA DDM HRD Solution
- The concordance of the HRD status obtained by GII with that obtained from standard method

Disclaimer: SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.