Detecting HRD in whole-genome and whole-exome sequenced breast and ovarian cancers.

Ammal AbbasiChristopher D SteeleErik N BergstromAzhar KhandekarAkanksha FarswanRana R MckayNischalan PillayLudmil B Alexandrov

Published in: medRxiv : the preprint server for health sciences (2024)

HRProfiler is a novel machine learning approach that harnesses only six mutational features to detect clinically useful HRD from both whole-genome and whole-exome sequenced breast and ovarian cancers. Our results provide a practical way for detecting HRD and caution against using individual HRD-associated mutational signatures as clinical biomarkers.

Keyphrases

machine learning
copy number
artificial intelligence
big data
deep learning
childhood cancer