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hgvs

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mutalyzer /mutalyzer

Tool suite for HGVS variant descriptions

map bioinformatics convert description variant normalize hgvs mutalyzer

UpdatedFeb 21, 2025
Python

ltnetcase /BedAnno

Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104

annotation-tool variant-annotation hgvs human-variation annotate-genomics-variations function-prediction

UpdatedAug 4, 2023
Perl

SoloEdward /HgvsGo

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.

bioinformatics panel variant vep ivd hgvs ldt snpeff

UpdatedNov 20, 2024

mutalyzer /algebra

A Boolean Algebra for Genetic Variants

python bioinformatics algebra genomics graph string genetics extractor edit-distance dna variants alignment compare sequence lcs relations hgvs

UpdatedMar 17, 2025
Python

chrovis /varity

Variant translation library for Clojure

clojure bioinformatics liftover vcf hgvs

UpdatedMar 4, 2025
Clojure

chrovis /clj-hgvs

Clojure(Script) library for handling HGVS

clojure bioinformatics clojurescript hgvs

UpdatedJan 9, 2025
Clojure

pstawinski /pygenebe

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

UpdatedNov 2, 2024
Python

mutalyzer /crossmapper

HGVS numbering conversions

map convert position coding genomic coordinate hgvs mutalyzer noncoding

UpdatedNov 21, 2021
Python

vegah /Fantasista.DNA

Library for DNA parsing / reading etc.

bioinformatics genetics biology vcf hgvs

UpdatedDec 13, 2024
C#

ccwang002 /pyhgvs-lite

A liteweight Python parser for HGVS names

parser hgvs lark-parser

UpdatedApr 10, 2020
Python

mutalyzer /client

Mutalyzer API client and command line interface.

api cli bioinformatics vcf hgvs mutalyzer

UpdatedSep 19, 2018
Python

NGeneBio-Genomics-Platform /variantValidator

Public repository for VariantValidator project

validation nomenclature vcf hgvs

UpdatedJan 28, 2021
Python

NGeneBio-Genomics-Platform /hgvs

HGVS variant name parsing and generation

python variant hgvs

UpdatedApr 29, 2020
Python

NGeneBio-Genomics-Platform /rest_variantValidator

REST Interface for VariantValidator. Includes docker container

api rest validator vcf variant hgvs

UpdatedJan 14, 2021
Python

NGeneBio-Genomics-Platform /variantFormatter

validation variant hgvs

UpdatedJan 13, 2021
Python

precisely /seqvarnomjs

Sequence Variant Nomenclature Parser

deprecated hgvs

UpdatedFeb 9, 2019
JavaScript

NGeneBio-Genomics-Platform /vv_hgvs

Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`

validation variants hgvs

UpdatedOct 23, 2020
Python

liuyanbioinfo /transvar

TransVar - multiway annotator for precision medicine

annotation oncology hgvs

UpdatedJan 8, 2025
Python

mutalyzer /hgvs-parser

HGVS variant description parser

syntax parser bioinformatics grammar description variant hgvs mutalyzer

UpdatedFeb 4, 2025
Python

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