Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Paulo C M LyraThales C NepomucenoMarcele L M de SouzaGéssica F MachadoMariana F VelosoTaciane B HenriquesDiandra Z Dos SantosIuly G RibeiroRoberto S RibeiroLeticia B A RangelMarcy RichardsonEdwin S IversenDavid GoldgarFergus J CouchMarcelo A CarvalhoAlvaro N A Monteiro

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

High quality functional data are available for BRCA1 missense variants and provide evidence for classification of 2355 VUS according to their pathogenicity.

Keyphrases

machine learning
deep learning
electronic health record
copy number
big data
high throughput
intellectual disability
breast cancer risk
data analysis
gene expression
autism spectrum disorder
genome wide
pseudomonas aeruginosa