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Author

Liu Sun

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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
Open access Jul 2026

Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database.

The estimated global genetic susceptibility prevalence of primary ciliary dyskinesia is approximately 1 in 20,103, with an overall carrier frequency of 1 in 25, indicating significant heterogeneity among ethnic populations.

Ru-Tao Dai, Ya Dao, Xi-Chen Zhang et al. · 0 citations

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