Author

Nikita Bora

Nanyang Technological UniversityORCID 0000-0001-9136-0818Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ankit Kumar PathakiD· 2 shared Joanne Yuen Yie NgeowiD· 2 shared Joseph A. MarshiD· 2 shared Mihaly BadonyiiD· 2 shared Benjamin LiveseyiD· 1 shared Rutharra Ghayadthri Manisekaran· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 14 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ankit Kumar PathakORCID

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2 papers

Recent·Most cited

Combining MAVEs and computational predictors improves variant classification across ancestries in hereditary cancer genes

Nikita Bora, Mihaly Badonyi, Ankit Kumar Pathak, Rutharra Ghayadthri Manisekaran, Joseph A. Marsh, Joanne Yuen Yie Ngeow

This study combines MAVEs and population-free VEPs to improve variant classification across ancestries in hereditary cancer genes, reclassifying over 90% of variants of uncertain significance.

medRxiv · Dec 9, 2025 · PreprintGenetic & Genomic Medicine

Pervasive ancestry bias in variant effect predictors

Ankit Kumar Pathak, Nikita Bora, Mihaly Badonyi, Benjamin Livesey, Joanne Yuen Yie Ngeow, Joseph A. Marsh

This study evaluates ancestry bias in variant effect predictors and finds disparities in their performance across different populations.

bioRxiv · May 20, 2024 · PreprintBioinformatics