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Article

GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants.

BMC bioinformatics - 13 Aug 2025

Zhai Jing, Pitteloud Nelly, Santoni Federico A

Abstract excerpt

BACKGROUND: The rapid expansion of next-generation sequencing (NGS) technologies has generated vast amounts of genomic data, creating a growing demand for secure, scalable, and accessible tools to support variant interpretation. However, many existing solutions are command-line based, rely on cloud or server infrastructures that may pose data privacy risks, lack flexibility in supporting both VCF, CSV and TSV...

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Identifiers

PMID: 40804356
DOI: 10.1186/s12859-025-06238-6
PMCID: PMC12344886

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