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Jan 13, 2021 - Python
hgvs
Here are 20 public repositories matching this topic...
Public repository for VariantValidator project
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Jan 28, 2021 - Python
TransVar - multiway annotator for precision medicine
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Jan 8, 2025 - Python
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
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Oct 23, 2020 - Python
Library for DNA parsing / reading etc.
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Dec 13, 2024 - C#
HGVS variant description parser
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Sep 29, 2025 - Python
Clojure(Script) library for handling HGVS
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Jan 9, 2025 - Clojure
Variant translation library for Clojure
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Dec 9, 2025 - Clojure
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
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Dec 4, 2025 - Python
HgvsGo is a program designed for analyzing "c." and "p." HGVS (Human Genome Variation Society) notations for single nucleotide variations (SNVs) and small insertions/deletions (indels) after variant calling. It serves as an alternative to tools like snpEff and VEP.
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Nov 20, 2024
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
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Aug 4, 2023 - Perl
Tool suite for HGVS variant descriptions
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Dec 17, 2025 - Python
Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature.org/).
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Dec 17, 2025 - Python
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