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
