Author

Arnon Adler

University Health NetworkORCID 0000-0001-8142-4013Unclaimed 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

Amy Curry SturmiD· 1 shared Andrew Fleming· 1 shared Andrew Paul LandstromiD· 1 shared Angharad M. RobertsiD· 1 shared Arthur A.M. WildeiD· 1 shared Babken AsatryaniD· 1 shared Bert Louis CallewaertiD· 1 shared C. Anwar A. ChahaliD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy Curry SturmORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 23, 2023

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. Josephs, Angharad M. Roberts, Pantazis I. Theotokis…·James S. Ware

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

35 citationstop 2%

humanwhole-exome sequencing

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