Author

Trisha Karani

Massachusetts General Hospital

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

Biology Disciplines

Click to filter author papers

Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Evan M KochiD· 1 shared Jérémy GueziD· 1 shared Julia K. GoodrichiD· 1 shared Kaitlin E. SamochaiD· 1 shared Konrad J. KarczewskiiD· 1 shared Mikhail A. MoldovaniD· 1 shared Prathitha KariD· 1 shared Shamil R. SunyaeviD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

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

Curved chords = mutual co-authorship

1 shared paperGenetics

Evan M KochORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Inference of elevated mutation rates and variant effects using 700k exomes

Prathitha Kar, Mikhail A. Moldovan, Jérémy Guez, Sumaiya Nazeen, Julia K. Goodrich, Trisha Karani, Kaitlin E. Samocha, Konrad J. Karczewski, Evan M Koch, Vladimir B. Seplyarskiy, Shamil R. Sunyaev

The paper estimates mutation rates and variant effects using 700k exomes to identify genes with mutational hotspots and improve variant prioritization for genetic diagnostics.

bioRxiv · Jun 10, 2026 · PreprintGenetics