The role of clinical response to treatment in determining pathogenicity of genomic variants.

Joseph J ShenSaskia B WortmannLonneke de BoerLeo A J KluijtmansMarleen C D G HuigenJohannes KochStephanie RossChristin D CollinsRobin van der LeeClara D M van KarnebeekMadhuri R Hegde

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

We propose that the effect of therapies that are specific and targeted to treatable genetic diseases embodies an in vivo physiological response and could be considered as additional criteria within the 2015 ACMG/AMP guidelines in determining genomic variant pathogenicity.

Keyphrases

copy number
genome wide
biofilm formation
protein kinase
cancer therapy
dna methylation
gene expression
pseudomonas aeruginosa
drug delivery
staphylococcus aureus
cystic fibrosis