Author

Douglas Holmes

NYU Langone HealthORCID 0000-0002-3125-9483Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander KushniriD· 1 shared Anthony AizeriD· 1 shared Aviram HochstadtiD· 1 shared Chirag R. BarbhaiyaiD· 1 shared David S. ParkiD· 1 shared Felix YangiD· 1 shared Jacob Andrew MartiniD· 1 shared Larry A. ChinitziD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander KushnirORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of the American Heart AssociationPeer-reviewedOct 11, 2024

Performance of a Protein Language Model for Variant Annotation in Cardiac Disease

Aviram Hochstadt, Chirag R. Barbhaiya, Anthony Aizer…·Lior Jankelson

This paper evaluates AlphaMissense's performance in reclassifying cardiac disease variants using VarCard.io, showing high reclassification rates and genotype-phenotype concordance.

4 citations

humanGWAS summary statistics

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