Tool suite for HGVS variant descriptions
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Updated
Oct 21, 2024 - Python
Tool suite for HGVS variant descriptions
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
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.
Variant translation library for Clojure
Clojure(Script) library for handling HGVS
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
Public repository for VariantValidator project
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
TransVar - multiway annotator for precision medicine
HGVS variant description parser
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