Tool suite for HGVS variant descriptions
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Nov 22, 2024 - Python
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hgvs
Here are 13 public repositories matching this topic...
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
python
bioinformatics
genetics
clinvar
variant-annotations
hgvs
gnomad
vep-annotation
acmg-guidelines
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Updated
Nov 2, 2024 - Python
Public repository for VariantValidator project
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Jan 28, 2021 - Python
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Jan 13, 2021 - Python
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
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Oct 23, 2020 - Python
TransVar - multiway annotator for precision medicine
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Jul 1, 2019 - Python
HGVS variant description parser
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Updated
Nov 19, 2024 - Python
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