Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Sabine RaadMarion RolainSophie CoutantCéline DerambureRaphael LanosFrançoise CharbonnierJacqueline BouEmilie BouvigniesGwendoline LienardStéphanie VasseurMichael FarrellOlivier IngsterStéphanie Baert DesurmontEdwige KasperGaëlle BougeardThierry FrébourgIsabelle Tournier

Published in: Journal of medical genetics (2020)

This blood p53 assay should therefore be a useful tool for the rapid clinical classification of germline TP53 variants and detection of non-coding functional variants.

Keyphrases

copy number
loop mediated isothermal amplification
high throughput
dna repair
machine learning
deep learning
gene expression
oxidative stress
dna methylation
dna damage
genome wide
label free