Toward automation of germline variant curation in clinical cancer genetics.

Vignesh RavichandranZarina ShameerYelena KemelMichael WalshKaren CadooSteven LipkinDiana MandelkerLiying ZhangZsofia StadlerMark RobsonKenneth OffitJoseph Vijai

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Automation of variant curation enables unbiased, fast, efficient delivery of results in both clinical and laboratory research. We highlight the advantages and weaknesses related to the programmable automation of variant classification. PathoMAN will aid in rapid variant classification by generating robust models using a knowledgebase of diverse genetic data ( https://pathoman.mskcc.org).

Keyphrases

machine learning
deep learning
electronic health record
big data
oxidative stress
artificial intelligence
dna damage
young adults
squamous cell
data analysis