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.
3 papers
Recent·Most cited
Sanna Gudmundsson, Moriel Singer‐Berk, Sarah L. Stenton…·Fernando S. Goes
The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.
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.
Ryan L. Collins, Harrison Brand, Konrad J. Karczewski…·Adolfo Correa
Short-read genome sequencing of 14,891 diverse genomes yields 433,371 structural variants (SVs) for gnomAD; loss-constrained genes also resist duplication, and clinical SV carrier rates are benchmarked.