Author

Stacy Mano

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· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alysia Kern LovgreniD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Christina Anne Austin-TseiD· 1 shared Daniel G. MacArthuriD· 1 shared Eleina M. England· 1 shared Emily O’HeiriD· 1 shared Gabrielle LemireiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alysia Kern LovgrenORCID

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1 paper

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