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GitHub topics: hgvs

chrovis/varity

Variant translation library for Clojure

Language: Clojure - Size: 894 KB - Last synced at: 13 days ago - Pushed at: 13 days ago - Stars: 8 - Forks: 2

mutalyzer/algebra

A Boolean Algebra for Genetic Variants

Language: Python - Size: 1.12 MB - Last synced at: 4 days ago - Pushed at: 4 days ago - Stars: 11 - Forks: 2

mutalyzer/mutalyzer

Tool suite for HGVS variant descriptions

Language: Python - Size: 4.59 MB - Last synced at: 25 days ago - Pushed at: about 2 months ago - Stars: 40 - Forks: 9

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

Language: Python - Size: 2.94 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 6 - Forks: 0

mutalyzer/hgvs-parser

HGVS variant description parser

Language: Python - Size: 390 KB - Last synced at: about 1 month ago - Pushed at: 2 months ago - Stars: 0 - Forks: 3

chrovis/clj-hgvs

Clojure(Script) library for handling HGVS

Language: Clojure - Size: 389 KB - Last synced at: 22 days ago - Pushed at: 5 months ago - Stars: 7 - Forks: 0

liuyanbioinfo/transvar Fork of zwdzwd/transvar

TransVar - multiway annotator for precision medicine

Language: Python - Size: 5.39 MB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 0 - Forks: 0

vegah/Fantasista.DNA

Library for DNA parsing / reading etc.

Language: C# - Size: 652 KB - Last synced at: 3 days ago - Pushed at: 5 months ago - Stars: 1 - Forks: 0

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.

Language: C++ - Size: 2.08 MB - Last synced at: 6 months ago - Pushed at: 6 months ago - Stars: 17 - Forks: 0

ltnetcase/BedAnno

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

Language: Perl - Size: 2.79 MB - Last synced at: over 1 year ago - Pushed at: almost 2 years ago - Stars: 18 - Forks: 5

precisely/seqvarnomjs

Sequence Variant Nomenclature Parser

Language: JavaScript - Size: 170 KB - Last synced at: almost 2 years ago - Pushed at: over 6 years ago - Stars: 0 - Forks: 0

ccwang002/pyhgvs-lite

A liteweight Python parser for HGVS names

Language: Python - Size: 18.6 KB - Last synced at: 2 months ago - Pushed at: about 5 years ago - Stars: 1 - Forks: 0

mutalyzer/client

Mutalyzer API client and command line interface.

Language: Python - Size: 18.6 KB - Last synced at: 9 days ago - Pushed at: over 6 years ago - Stars: 1 - Forks: 1

mutalyzer/crossmapper

HGVS numbering conversions

Language: Python - Size: 199 KB - Last synced at: 7 days ago - Pushed at: over 3 years ago - Stars: 2 - Forks: 0