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Open access Jan 2026

VarSim: A Python Toolkit for HGVS Variant Description Validation, Normalization, and Representation Conversion

Accurate and reproducible representation of genetic variants is essential for clinical genomics, variant databases, and genomic research. The Human Genome Variation Society (HGVS) recommendations provide a standardized framework for describing sequence variants, but practical HGVS processing commonly involves multiple...

Liu Sun, Rong-Shu Wang, Jian Yang · 0 citations

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