Author

Mayher J. Patel

Broad InstituteORCID 0009-0002-2211-1126Unclaimed ORCID profile · follow to get notified of new preprints

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 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Madeline Y. Hughes· 2 shared Marina T. DiStefanoiD· 2 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ahmad N. Abou TayouniD· 1 shared Ai Ling KohiD· 1 shared Akanchha KesariiD· 1 shared Alex Chapin· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Madeline Y. Hughes

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

1 citation

humanstatistical model

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 6, 2021

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza…·Kejian Zhang

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

44 citationstop 4%

humanGWAS summary statistics

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