Author

Shantanu Bafna

Icahn School of Medicine at Mount SinaiORCID 0000-0002-5299-9325Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:GWAS summary statistics· 2 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Daniel M. JordaniD· 3 shared Ghislain RocheleauiD· 3 shared Iain S. ForrestiD· 3 shared Ron DoiD· 3 shared Áine DuffyiD· 2 shared Ha My T. VyiD· 2 shared Marie VerbanckiD· 2 shared Amanda L. DobbyniD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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3 shared papersGenetic & Genomic Medicine

Daniel M. JordanORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Phenome-wide Mendelian randomization study of plasma triglycerides and 2,600 disease traits

Joshua K. Park, Shantanu Bafna, Iain S. Forrest, Áine Duffy, Carla Márquez‐Luna, Ben Omega Petrazzini, Ha My T. Vy, Daniel M. Jordan, Marie Verbanck, Jagat Narula, Robert S. Rosenson, Ghislain Rocheleau, Ron Do

This study uses Mendelian randomization to identify causal effects of plasma triglycerides on 2,600 disease traits, finding 19 significant associations including cardiovascular and non-atherosclerotic diseases.

eLife · Mar 29, 2023Peer-reviewedGenetic & Genomic Medicine

A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank

Ghislain Rocheleau, Iain S. Forrest, Áine Duffy, Shantanu Bafna, Amanda L. Dobbyn, Marie Verbanck, Hong‐Hee Won, Daniel M. Jordan, Ron Do

The paper constructs a tissue-level phenome-wide network map linking genes and phenotypes using colocalized signals from the UK Biobank and Genotype-Tissue Expression project.

Communications Biology · Aug 20, 2022Peer-reviewedGenomics

Ancestrally and Temporally Diverse Analysis of Penetrance of Clinical Variants in 72,434 Individuals

Iain S. Forrest, Kumardeep Chaudhary, Ha My T. Vy, Shantanu Bafna, Daniel M. Jordan, Ghislain Rocheleau, Ruth J. F. Loos, Judy H. Cho, Ron Do

The paper quantifies disease risk associated with 37,772 clinical variants across 72,434 individuals, revealing heterogeneity in penetrance and limitations of current variant classification systems.

medRxiv · Mar 11, 2021 · PreprintGenetic & Genomic Medicine