Author

Philip W. Darnowsky

Broad Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Research Focus:database / resource· 2 Assay:whole-exome sequencing· 2 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Katherine R. ChaoiD· 3 shared Samantha M. BaxteriD· 3 shared Grace TiaoiD· 2 shared Heidi L. RehmiD· 2 shared Julia K. GoodrichiD· 2 shared Konrad J. KarczewskiiD· 2 shared Laura Doyle Gauthier· 2 shared Mark J. DalyiD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Katherine R. ChaoORCID

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Author profile →

3 papers

Recent·Most cited

Integrating 730,947 exome sequences with clinical literature improves gene discovery

Jérémy Guez, Julia K. Goodrich, Mikhail A. Moldovan, Katherine R. Chao, Prathitha Kar, Ruchit Panchal, Michael W. Wilson, Kristen M. Laricchia, Greg Rohlicek, Dmitry Biba, Daniel Marten, Qin He, Philip W. Darnowsky, Riley H. Grant, Ben Weisburd, , 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.

medRxiv · Mar 25, 2026 · PreprintGenetic & Genomic Medicine✦ In-depth digest

Improved Allele Frequencies in gnomAD through Local Ancestry Inference

Pragati Kore, Michael W. Wilson, Grace Tiao, Katherine R. Chao, Philip W. Darnowsky, Nicholas A. Watts, Jessica Mauer, Samantha M. Baxter, Heidi L. Rehm, Mark J. Daly, Konrad J. Karczewski, Elizabeth G. Atkinson

This paper improves allele frequency estimates in gnomAD by applying local ancestry inference to admixed populations, revealing significant frequency differences that could affect clinical interpretation.

Nature Communications · Oct 6, 2025Peer-reviewedGenomics

Inferring compound heterozygosity from large-scale exome sequencing data

Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer‐Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha M. Baxter, Maria Teresa Abreu, Carlos Alberto Aguilar-Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, , Bong-Jo Kim

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

Nature Genetics · Dec 6, 2023Peer-reviewedGenomics