Transcript expression-aware annotation improves rare variant interpretation

The Genome Aggregation Database (gnomAD)
Article | 27 May 2020 | Open Access

 

Article | 27 May 2020 | Open Access
Transcript expression-aware annotation improves rare variant interpretation
A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.
Beryl B. Cummings, Konrad J. Karczewski[…] & Daniel G. MacArthur