Tool suite for HGVS variant descriptions
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Updated
Nov 22, 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
Library for DNA parsing / reading etc.
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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