Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.

Robin N BeaumontGareth HawkesAdam C GunningCaroline F Wright

Published in: Genome medicine (2024)

Our results suggest the potential benefits of localised constraint metrics and that the location of pLoF variants should be considered when interpreting variants.

Keyphrases

copy number
genome wide
single cell
risk assessment
climate change
transcription factor