Publications
7 shownA Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...
Quantifying prion disease penetrance using large population control cohorts
Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
Clonal hematopoiesis with somatic mutations is readily detected by means of DNA sequencing, is increasingly common as people age, and is associated with increased risks of hemat...
Frequent Co-Authors
Researcher Info
- h-index
- 7
- Publications
- 7
- Citations
- 17,361
- Institution
- Broad Institute
External Links
Identifiers
- ORCID
- 0000-0002-6954-8184
Impact Metrics
h-index
7
h-index: Number of publications with at least h citations each.