hgvs

There are 0 repository under hgvs topic.

• mutalyzer / mutalyzer

  Tool suite for HGVS variant descriptions

  bioinformaticsmutalyzerhgvsdescriptionvariantconvertmapnormalize
  Language:Python 30

• ltnetcase / BedAnno

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

  human-variationhgvsvariant-annotationannotate-genomics-variationsannotation-toolfunction-prediction
  Language:Perl 18

• 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.

  hgvsvepsnpeffpanelvariantbioinformaticsivdldt
  Language:C++ 14

• mutalyzer / algebra

  A Boolean Algebra for Genetic Variants

  pythongenomicsalgebrahgvsgeneticslcsalignmentedit-distancegraphsequencestringcomparerelationsbioinformaticsvariantsdnaextractor
  Language:Python 10

• chrovis / varity

  Variant translation library for Clojure

  clojurebioinformaticsvcfhgvsliftover
  Language:Clojure 7

• chrovis / clj-hgvs

  Clojure(Script) library for handling HGVS

  bioinformaticsclojureclojurescripthgvs
  Language:Clojure 6

• mutalyzer / crossmapper

  HGVS numbering conversions

  convertmaphgvsmutalyzerpositioncoordinatecodingnoncodinggenomic
  Language:Python 2

• 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

  acmg-guidelinesbioinformaticsgeneticsgnomadhgvspythonvariant-annotationsvep-annotationclinvar
  Language:Python 2

• ccwang002 / pyhgvs-lite

  A liteweight Python parser for HGVS names

  hgvsparserlark-parser
  Language:Python 1

• mutalyzer / client

  Mutalyzer API client and command line interface.

  hgvsmutalyzercliapivcfbioinformatics
  Language:Python 1

• NGeneBio-Genomics-Platform / hgvs

  HGVS variant name parsing and generation

  hgvspythonvariant
  Language:Python 0

• NGeneBio-Genomics-Platform / rest_variantValidator

  REST Interface for VariantValidator. Includes docker container

  apihgvsrestvalidatorvariantvcf
  Language:Python 0

• NGeneBio-Genomics-Platform / variantFormatter

  hgvsvalidationvariant
  Language:Python 0

• NGeneBio-Genomics-Platform / vv_hgvs

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

  hgvsvalidationvariants
  Language:Python 0

• mutalyzer / hgvs-parser

  HGVS variant description parser

  grammarhgvsparserdescriptionmutalyzervariantsyntaxbioinformatics
  Language:Python

• NGeneBio-Genomics-Platform / variantValidator

  Public repository for VariantValidator project

  hgvsnomenclaturevalidationvcf
  Language:Python

• precisely / seqvarnomjs

  Sequence Variant Nomenclature Parser

  hgvsdeprecated
  Language:JavaScript