Alternatives and similar repositories for hgvs

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

• zwdzwd / transvar
  TransVar - multiway annotator for precision medicine
  ☆126Updated 2 years ago
• atks / vt
  A tool set for short variant discovery in genetic sequence data.
  ☆204Updated 4 years ago
• AstraZeneca-NGS / VarDict
  VarDict
  ☆201Updated 2 years ago
• adamewing / bamsurgeon
  tools for adding mutations to existing .bam files, used for testing mutation callers
  ☆247Updated last year
• GregoryFaust / samblaster
  samblaster: a tool to mark duplicates and extract discordant and split reads from sam files.
  ☆237Updated 4 years ago
• hall-lab / speedseq
  A flexible framework for rapid genome analysis and interpretation
  ☆318Updated 3 years ago
• mutalyzer / mutalyzer2
  HGVS variant nomenclature checker
  ☆98Updated 2 years ago
• macarthur-lab / clinvar
  This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…
  ☆128Updated 5 years ago
• mozack / abra2
  ABRA2
  ☆95Updated 3 years ago
• Illumina / Nirvana
  The nimble & robust variant annotator
  ☆190Updated last year
• Kennedy-Lab-UW / Duplex-Sequencing
  ☆57Updated 5 years ago
• WGLab / InterVar
  A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
  ☆205Updated 2 years ago
• brentp / bio-playground
  miscellaneous scripts for bioinformatics/genomics that dont merit their own repo.
  ☆182Updated 7 years ago
• genome / pindel
  Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants …
  ☆175Updated 6 years ago
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆75Updated 6 years ago
• OpenGene / MutScan
  Detect and visualize target mutations by scanning FastQ files directly
  ☆157Updated 3 years ago
• gatk-workflows / gatk4-germline-snps-indels
  Workflows for germline short variant discovery with GATK4
  ☆139Updated 4 years ago
• ga4gh / benchmarking-tools
  Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
  ☆208Updated 4 years ago
• SciLifeLab / Sarek
  Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing
  ☆133Updated 5 years ago
• broadinstitute / mutect
  MuTect -- Accurate and sensitive cancer mutation detection
  ☆102Updated 2 years ago
• nygenome / lancet
  Microassembly based somatic variant caller for NGS data
  ☆154Updated 3 years ago
• konradjk / exac_browser
  Browser for ExAC consortium data
  ☆106Updated 3 years ago
• Illumina / interop
  C++ Library to parse Illumina InterOp files
  ☆80Updated last month
• OpenGene / GeneFuse
  Gene fusion detection and visualization
  ☆131Updated 3 years ago
• dkoboldt / varscan
  Variant calling and somatic mutation/CNV detection for next-generation sequencing data
  ☆165Updated 2 years ago
• broadinstitute / seqr
  web-based analysis tool for rare disease genomics
  ☆198Updated this week
• dnanexus-rnd / GLnexus
  Scalable gVCF merging and joint variant calling for population sequencing projects
  ☆175Updated last year
• walaj / svaba
  Structural variation and indel detection by local assembly
  ☆250Updated 4 months ago
• AstraZeneca-NGS / VarDictJava
  VarDict Java port
  ☆138Updated 2 years ago
• mdshw5 / fastqp
  Simple FASTQ quality assessment using Python
  ☆109Updated 4 years ago