Publications
4 shownThe mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
There is a limited understanding about the impact of rare protein-truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitat...
Frequent Co-Authors
Researcher Info
- h-index
- 4
- Publications
- 4
- Citations
- 13,026
- Institution
- Broad Institute
External Links
Identifiers
- ORCID
- 0000-0002-8147-240X
Impact Metrics
h-index
4
h-index: Number of publications with at least h citations each.