Author

Emma H. Wilcox

Broad InstituteORCID 0000-0003-4972-2947Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:variant effect prediction· 3 Research Focus:database / resource· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Heidi L. RehmiD· 3 shared Ahmad N. Abou TayouniD· 2 shared Alex Chapin· 1 shared Andrea M. OzaiD· 1 shared Andrew J. GriffithiD· 1 shared Andrew R. GrantiD· 1 shared Anne B. Skvorak GierschiD· 1 shared Arti PandyaiD· 1 shared

Activity by Year

2021-2021 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Heidi L. RehmORCID

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3 papers

Recent·Most cited

GenomicsGenetics in MedicinePeer-reviewedDec 23, 2021

Evaluating the impact of in silico predictors on clinical variant classification

Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf…·Ahmad N. Abou Tayoun

This study evaluates how in silico predictors influence clinical variant classification, finding that PP3 and BP4 criteria are frequently applied and often affect variant classifications.

58 citationstop 3%

humanwhole-exome sequencing

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Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewedAug 9, 2021

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project

Emma H. Wilcox, Steven M. Harrison, Edward R. Lockhart…·Birgit Funke

The paper curates a list of clinically important variants for use in clinical genomic test development and validation.

8 citations

whole-exome sequencingwhole-genome sequencing

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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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