Author

Ofer Isakov

Harvard UniversityORCID 0000-0003-0955-0802Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Amal Abu RayyaniD· 1 shared Amihood Singer· 1 shared Amir PelegiD· 1 shared Asgeir Orn ArnthorssoniD· 1 shared Bella DavidoviD· 1 shared Chana VinkleriD· 1 shared Dina Marek-Yagel· 1 shared Doaa Ali‐Naffaa· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Amal Abu RayyanORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintOct 2, 2024

The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction Tools

Ofer Isakov, Reut Fluss, Dina Marek-Yagel, Shay Ben Shachar

This study evaluates how VEP tools' performance varies with molecular and clinical factors and recalibrates their thresholds to improve pathogenicity classification.

1 citation

whole-exome sequencingstatistical model

𝕏 PostBluesky

GeneticsClinical GeneticsPeer-reviewedJul 20, 2020

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh…·Karen B. Avraham

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.

31 citations

humanwhole-exome sequencing

𝕏 PostBluesky