Author

Carol A. Bocchini

Johns Hopkins University

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:statistical model· 1

Frequent Co-Authors

Ada HamoshiD· 1 shared Alison J. CoffeyiD· 1 shared Ana RathiD· 1 shared Angharad M. RobertsiD· 1 shared Annie OlryiD· 1 shared Arina PuzriakovaiD· 1 shared Caroline Fiona WrightiD· 1 shared Catherine SnowiD· 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

Ada HamoshORCID

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1 paper

Recent·Most cited

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Marina T. DiStefano, Scott R. Goehringer, Lawrence J. Babb, Fowzan Sami Alkuraya, Joanna S. Amberger, Mutaz Amin, Christina Anne Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol A. Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona M Cunningham, , Heidi L. Rehm

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

Genetics in Medicine · May 4, 2022Peer-reviewedGenetic & Genomic Medicine