Ruchi Munshi

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index16.2kcitations27works54.02yr avg
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Research Topics

Genomics and Rare Diseases(17), Genomics and Phylogenetic Studies(6), Genomic variations and chromosomal abnormalities(4), Cancer Genomics and Diagnostics(4), Genomics and Chromatin Dynamics(3)

Publications24 total

Empowering the biomedical research community: Innovative SAS deployment on the <i>All of Us</i> Researcher Workbench
Journal of the American Medical Informatics Association·2024· 2 citedOpen Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2023· 1.1k citedOpen Access
LungMAP Portal Ecosystem: Systems-level Exploration of the Lung
American Journal of Respiratory Cell and Molecular Biology·2022· 50 citedOpen Access
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
2022· 322 citedOpen Access
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space
Cell Genomics·2022· 126 citedOpen Access
LungMAP Portal Ecosystem: Systems-Level Exploration of the Lung
2021· 4 citedOpen Access
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (Nature Communications, (2020), 11, 1, (2539), 10.1038/s41467-019-12438-5)
Nature Communications·2021· 1 citedOpen Access
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2021· 57 citedOpen Access
Author Correction: A structural variation reference for medical and population genetics
Nature·2021· 16 citedOpen Access
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2021· 95 citedOpen Access
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications·2021· 1 citedOpen Access
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications·2021· 2 citedOpen Access
The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
Nature·2021· 4 cited
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2020· 9.6k citedOpen Access
A structural variation reference for medical and population genetics
Nature·2020· 1.1k citedOpen Access
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications·2020· 179 citedOpen Access
Transcript expression-aware annotation improves rare variant interpretation
Nature·2020· 198 citedOpen Access
The effect of LRRK2 loss-of-function variants in humans
Nature Medicine·2020· 108 citedOpen Access
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications·2020· 138 citedOpen Access
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Frequent Co-authors

Eric Banks(20), Laurent C. Francioli(19), Jessica Alföldi(19), Nicholas A. Watts(19), Anne O’Donnell‐Luria(19), Ryan L. Collins(18), Laura D. Gauthier(18), Matthew Solomonson(18), Timothy Poterba(18), Valentín Ruano-Rubio(18), Beryl B. Cummings(17), Yossi Farjoun(17), Christopher Vittal(17), Louis Bergelson(17), Miguel Covarrubias(17), Steven Ferriera(17), Stacey Gabriel(17), Namrata Gupta(17), Thibault Jeandet(17), Christopher Llanwarne(17)