Author

Villem Pata

Tartu University HospitalORCID 0009-0006-3478-9304Unclaimed 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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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Katrin ÕunapiD· 2 shared Sander PajusaluiD· 2 shared Ana TöpfiD· 1 shared Anna ŁusakowskaiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Atchayaram NaliniiD· 1 shared Audrey L. DaughertyiD· 1 shared Ben WeisburdiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersBioinformatics

Katrin ÕunapORCID

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintDec 27, 2025

Monte Carlo Simulation Analysis of Variant Burden Prompts Potential Oligogenic Interactions

Villem Pata, Markus Marandi, Jaan Marten Huik…·Sander Pajusalu

The paper uses Monte Carlo simulations on summary-level allele counts to detect pathway-level variant burden enrichment in neuromuscular disease, identifying potential oligogenic interactions.

DOI 10.64898/2025.12.27.696666

humanGWAS summary statistics

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 9, 2024

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Ben Weisburd, Rakshya Sharma, Villem Pata…·Anne O’Donnell‐Luria

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

7 citations

humanwhole-exome sequencing

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