Author

Harindra Arachchi

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 2 Organism:human· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Approach:experimental assay· 1

Frequent Co-Authors

Christina Anne Austin-TseiD· 2 shared Daniel G. MacArthuriD· 2 shared Eleina M. England· 2 shared Katherine R. ChaoiD· 2 shared Samantha M. BaxteriD· 2 shared Stephanie P. DiTroiaiD· 2 shared Ada HamoshiD· 1 shared Adam L. Felsenfeld· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christina Anne Austin-TseORCID

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2 papers

Recent·Most cited

seqr: a web-based analysis and collaboration tool for rare disease genomics

Lynn S. Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M. Baxter, Stephanie P. DiTroia, Emily O’Heir, Eleina M. England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael W. Wilson, Kevin K. Nguyen, Harindra Arachchi, , Anne O’Donnell‐Luria

seqr is a web-based tool for analyzing rare disease genomic data, enabling variant filtering, annotation, and collaboration, with over 10,000 families analyzed and 300 novel disease genes discovered.

Human Mutation · Mar 10, 2022Peer-reviewedGenetic & Genomic Medicine

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter, Jennifer Ellen Posey, Nicole J. Lake, Nara Lygia de Macena Sobreira, Jessica X. Chong, Steven G. Buyske, Elizabeth Blue, Lisa Helbling Chadwick, Zeynep Coban‐Akdemir, Kimberly Floy Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, , Kurt N. Hetrick

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

Genetics in Medicine · Feb 8, 2022Peer-reviewedGenetic & Genomic Medicine