Author

Ruchit Panchal

Broad InstituteORCID 0000-0002-4664-4501Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Ben WeisburdiD· 2 shared Benjamin M. NealeiD· 2 shared Christopher Vittal· 2 shared Daniel G. MacArthuriD· 2 shared Grace TiaoiD· 2 shared Heidi L. RehmiD· 2 shared Jacqueline I. GoldsteiniD· 2 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

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2 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

The landscape of regional missense mutational intolerance quantified from 730,947 exomes

Lily Wang, Katherine R. Chao, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H. Grant, Jack A. Kosmicki, Ben Weisburd, William Phu, Michael W. Wilson, Kristen M. Laricchia, Julia K. Goodrich, , Kaitlin E. Samocha

The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.

bioRxiv · Apr 11, 2024 · PreprintGenomics