Author

Leora Witkowski

Mass General BrighamORCID 0000-0002-5736-2534Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:electronic health records· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ali G. GharaviiD· 1 shared Amanda B. SpurdleiD· 1 shared Ann Katherine M. ForemaniD· 1 shared Ayorinde CooleyiD· 1 shared Bing FengiD· 1 shared Bryce A. SeifertiD· 1 shared Carrie L. Blout ZawatskyiD· 1 shared Chenjie ZengiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ali G. GharaviORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJAMA OncologyPeer-reviewedApr 21, 2022

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

Chenjie Zeng, Lisa A. Bastarache, Ran Tao…·Joshua C. Denny

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

47 citationstop 2%

humanelectronic health records

𝕏 PostBluesky

Genetic & Genomic MedicineHuman MutationPeer-reviewedDec 10, 2020

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuño, Kristy Lee, Magali Olivier…·the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

170 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky