Author

Ozan Vural

Gazi UniversityORCID 0009-0009-1420-9263Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:eQTL / molecular QTL mapping· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ali BabazadeiD· 2 shared Mehmet Ali ErgüniD· 2 shared Tarik DuzenliiD· 2 shared Ceren Furtana· 1 shared Yarkın DolaşiD· 1 shared Yusuf BahapiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

6 top collaborators · 13 mutual co-author links

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2 shared papersGenetics

Ali BabazadeORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintOct 24, 2026

Calibration of AlphaGenome Variant Impact and SpliceAI2 scores as PP3/BP4 evidence for missense, non-coding, and synonymous variants

Ali Babazade, Yarkın Dolaş, Tarik Duzenli…·Mehmet Ali Ergün

The paper calibrates AlphaGenome Variant Impact (AVI) and SpliceAI2 scores for variant classification, showing their performance across different variant classes and comparison methods.

DOI 10.64898/2026.10.21.760715

whole-exome sequencingstatistical model

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Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

HECTOR: A Web-Based Tool for Automated BRCA1/BRCA2 Variant Classification Under the ClinGen ENIGMA Specifications

Tarik Duzenli, Ali Babazade, Ozan Vural…·Mehmet Ali Ergün

HECTOR is a web-based tool that automates BRCA1/BRCA2 variant classification according to ENIGMA specifications, achieving high concordance with expert curation and resolving many variants classified as uncertain or conflicting.

1 citation

humanwhole-exome sequencing

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