Author

Shifa Zhang

Broad InstituteORCID 0000-0002-7361-9336Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

Genetic & Genomic MedicineHuman MutationPeer-reviewedMar 10, 2022

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

Lynn S. Pais, Hana Snow, Ben Weisburd…·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.

106 citationstop 1%

humanwhole-exome sequencing

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