Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2 , and SCN5A Compared With Patch-Clamp Functional Characterization.

Dan Ye Ramin GarmanyEstefania Martinez-BarriosXiaozhi Gao Raquel Almeida Lopes Neves David J Tester Sahej BainsWei ZhouJohn R GiudicessiMichael J Ackerman

Published in: Circulation. Genomic and precision medicine (2024)

Deep protein language models aid in VUS resolution with high sensitivity but lower specificity. Thus, these tools cannot fully replace functional characterization but can aid in reducing the number of variants that may require functional analysis.

Keyphrases

copy number
autism spectrum disorder
protein protein
single molecule
binding protein
dna methylation
data analysis