Ashley EA

ORCID: 0000-0001-9418-9577 · 1 paper in corpus · active 2018
2018
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
Nature communications ·doi:10.1038/s41467-018-03910-9

Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed…