Author

V.K. Dubey

ORCID 0009-0008-3792-0149Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Christopher Edward EisenhartiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 9, 2026

Empirically calibrated allele frequency thresholds for ACMG BA1, BS1 and PM2 evidence criteria

V.K. Dubey, Christopher Edward Eisenhart

The paper derives empirically calibrated allele frequency thresholds for ACMG variant classification criteria, showing they vary by gene and inheritance mode, improving accuracy over fixed defaults.

DOI 10.64898/2026.09.07.26362456

whole-exome sequencingstatistical model

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