Author

Alexander Kushnir

NYU Langone HealthORCID 0000-0003-1644-643XUnclaimed 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

Anthony AizeriD· 1 shared Aviram HochstadtiD· 1 shared Chirag R. BarbhaiyaiD· 1 shared David S. ParkiD· 1 shared Douglas HolmesiD· 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

Anthony AizerORCID

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1 paper

Recent·Most cited

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

Aviram Hochstadt, Chirag R. Barbhaiya, Anthony Aizer, Scott Bernstein, Marina Cerrone, Leonid Garber, Douglas Holmes, Robert J. Knotts, Alexander Kushnir, Jacob Andrew Martin, David S. Park, Michael A. Spinelli, Felix Yang, Larry A. Chinitz, Lior Jankelson

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

Journal of the American Heart Association · Oct 11, 2024Peer-reviewedGenetic & Genomic Medicine