Author

Ayşegül Kuşkucu

Yeditepe UniversityORCID 0000-0001-9265-7816Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ozge Ayse CavusiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

1 paper

Recent·Most cited

GenomicsbioRxivPreprintOct 17, 2026

Benchmarking the AlphaGenome Variant Impact score against SpliceAI on post-release ClinVar classifications and experimental splicing assays

Ozge Ayse Cavus, Ayşegül Kuşkucu

This paper benchmarks the AlphaGenome Variant Impact score against SpliceAI on post-release ClinVar classifications and experimental splicing assays, finding AVI performs well but not outperforms splicing predictors on AUROC.

1 citation

humanwhole-exome sequencing

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