Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.

Pilar MurJulen Viana-ErrastiSandra García-MuleroLorena Magraner-PardoInés G MuñozTirso PonsGabriel CapelláMarta PinedaLidia FeliubadalóLaura Valle

Published in: Genome medicine (2023)

Our recommendations, with room for improvement in the coming years as more information become available on carrier families, tumor molecular characteristics and functional assays, are intended to serve the clinical and scientific communities and help improve diagnostic performance, avoiding variant misclassifications.

Keyphrases

clinical practice
machine learning
deep learning
copy number
high throughput
dna repair
gene expression
oxidative stress
dna methylation