Author

Elizabeth Duffy Hynes

ORCID 0000-0002-3817-2145Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 1 shared Andrea M. OzaiD· 1 shared Andrew R. GrantiD· 1 shared Brandon J. Cushman· 1 shared Heidi L. RehmiD· 1 shared Marina T. DiStefanoiD· 1 shared Mark BowseriD· 1 shared Michael GonzaleziD· 1 shared

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2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Ahmad N. Abou TayounORCID

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1 paper

Recent·Most cited

GenomicsJournal of Molecular DiagnosticsPeer-reviewedAug 7, 2018

Curating clinically relevant transcripts for the interpretation of sequence variants

Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman…·Ahmad N. Abou Tayoun

The paper curates clinically relevant transcripts for 109 hearing loss-associated genes to improve variant interpretation by classifying exons based on expression, variant frequency, and sequencing quality.

24 citations

humanwhole-exome sequencing

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