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

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About

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

Presenter

Dr. Alexandre Harlé Biologist/Professor of theliquid biopsy and tumour heterogeneity group at Institut de Cancérologie de Lorraine-Alexis Vautrin, Nancy, France

Pr. Harlé earned his doctoral degree in 2014 with a specialization in Oncology and biomarkers from the University of Lorraine, Nancy, France. He is now laboratory head of the liquid biopsy and tumour heterogeneity group and biologist at Institut de Cancérologie de Lorraine-Alexis Vautrin, Nancy, France.
His team has led the development and validation of numerous PCR and NGS assays for the detection of circulating tumour DNA in solid tumours for theragnostic, patient follow-up and minimal residual disease. His group is also involved in the analysis of solid tumours to decipher tumour heterogeneity and genomic instability.

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

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The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expresseda during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

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

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

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