Article

A deep learning approach for improved detection of homologous recombination deficiency from shallow genomic profiles

2022-07-07

Abstract excerpt

Homologous Recombination Deficiency (HRD) is a predictive biomarker of poly-ADP ribose polymerase 1 inhibitors (PARPi) response. Most HRD detection methods are based on genome wide enumeration of scarring events and require deep genome sequence profiles (> 30x). The cost and workflow-specific biases introduced by these genome profiling methods currently limits clinical adoption of HRD testing. We introduce the Gen...

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Literature Corpus work: 5d7a3745-f3f1-58a6-8e23-13b4367ceecd
DOI: 10.1101/2022.07.06.498851

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