Alternatives and similar repositories for hgvs

Users that are interested in hgvs are comparing it to the libraries listed below

• counsyl / hgvs
  HGVS variant name parsing and generation
  ☆176Updated 2 years ago
• daler / pybedtools
  Python wrapper -- and more -- for BEDTools (bioinformatics tools for "genome arithmetic")
  ☆328Updated 9 months ago
• brentp / cyvcf2
  cython + htslib == fast VCF and BCF processing
  ☆422Updated 2 months ago
• hall-lab / speedseq
  A flexible framework for rapid genome analysis and interpretation
  ☆317Updated 3 years ago
• WGLab / InterVar
  A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
  ☆204Updated 2 years ago
• broadinstitute / seqr
  web-based analysis tool for rare disease genomics
  ☆198Updated this week
• pezmaster31 / bamtools
  C++ API & command-line toolkit for working with BAM data
  ☆429Updated 7 months ago
• Illumina / Nirvana
  The nimble & robust variant annotator
  ☆188Updated last year
• adamewing / bamsurgeon
  tools for adding mutations to existing .bam files, used for testing mutation callers
  ☆247Updated last year
• RealTimeGenomics / rtg-tools
  RTG Tools: Utilities for accurate VCF comparison and manipulation
  ☆330Updated 7 months ago
• zwdzwd / transvar
  TransVar - multiway annotator for precision medicine
  ☆126Updated 2 years ago
• brentp / vcfanno
  annotate a VCF with other VCFs/BEDs/tabixed files
  ☆392Updated 4 months ago
• ga4gh / benchmarking-tools
  Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
  ☆208Updated 4 years ago
• lgmgeo / AnnotSV
  Annotation and Ranking of Structural Variation
  ☆279Updated 3 months ago
• mutalyzer / mutalyzer2
  HGVS variant nomenclature checker
  ☆98Updated 2 years ago
• pcingola / SnpEff
  ☆299Updated 3 weeks ago
• konradjk / loftee
  ☆187Updated 2 years ago
• bioinform / somaticseq
  An ensemble approach to accurately detect somatic mutations using SomaticSeq
  ☆202Updated 5 months ago
• macarthur-lab / gene_lists
  List of gene lists for genomic analyses.
  ☆224Updated 3 years ago
• g2nb / igv-jupyter
  Extension for Jupyter which integrates igv.js
  ☆154Updated 3 years ago
• gatk-workflows / gatk4-data-processing
  Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools
  ☆160Updated 3 years ago
• The-Sequence-Ontology / Specifications
  GFF and GVF specification documents
  ☆219Updated last year
• Illumina / hap.py
  Haplotype VCF comparison tools
  ☆456Updated 2 years ago
• FRED-2 / OptiType
  Precision HLA typing from next-generation sequencing data
  ☆205Updated last year
• exomiser / Exomiser
  A Tool to Annotate and Prioritize Exome Variants
  ☆235Updated 2 weeks ago
• broadinstitute / gatk-sv
  A structural variation pipeline for short-read sequencing
  ☆200Updated this week
• bedops / bedops
  BEDOPS: high-performance genomic feature operations
  ☆356Updated 8 months ago
• OpenGene / AfterQC
  Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data
  ☆212Updated 5 years ago
• dellytools / delly
  DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
  ☆499Updated 2 months ago
• ucscGenomeBrowser / kent
  UCSC Genome Browser source. "beta" is released version / "master" is testing.
  ☆249Updated last week