Author
Broad Institute
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
5 papers
Recent·Most cited
Zih‐Hua Fang, Riley H. Grant, Dan Vitale…·the Global Parkinson’s Genetic Program (GP2)
The paper introduces a genome browser for Parkinson's disease genomic data, integrating WGS and CES samples with variant annotations and ancestry stratification.
Samantha M. Baxter, Moriel Singer‐Berk, Carmen Glaze…·Anne O’Donnell‐Luria
The paper estimates genetic prevalence for 22 autosomal recessive conditions using gnomAD data and develops a tool to democratize these calculations, highlighting the dynamic nature of prevalence estimates.
Jérémy Guez, Julia K. Goodrich, Mikhail A. Moldovan…·Konrad J. Karczewski
gnomAD v4 (730,947 exomes) brings LOFTEE-2 loss-of-function annotation (0.90 precision, strict mode), missense-aware constraint, and LLM-mined literature evidence combined with constraint to rank disease genes.
Lily Wang, Katherine R. Chao, Ruchit Panchal…·Kaitlin E. Samocha
The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.
Siwei Chen, Laurent C. Francioli, Julia K. Goodrich…·David B. Goldstein
Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.