Alternatives and similar repositories for SO-Ontologies

Users that are interested in SO-Ontologies are comparing it to the libraries listed below

• ga4gh / vrs
  Extensible specification for representing and uniquely identifying biological sequence variation
  ☆88Updated 2 months ago
• ga4gh / vrs-python
  GA4GH Variation Representation Python Implementation
  ☆56Updated last month
• biocommons / uta
  Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…
  ☆65Updated 2 months ago
• sequana / sequana
  Sequana: a set of Snakemake NGS pipelines
  ☆146Updated 3 months ago
• ga4gh / va-spec
  An information model for representing variant annotations.
  ☆18Updated last week
• broadinstitute / gatk-sv
  A structural variation pipeline for short-read sequencing
  ☆188Updated last week
• Illumina / ExpansionHunterDenovo
  A suite of tools for detecting expansions of short tandem repeats
  ☆80Updated last year
• jdidion / atropos
  An NGS read trimming tool that is specific, sensitive, and speedy. (production)
  ☆121Updated last month
• NCBI-Hackathons / Community_Software_Tools_for_NGS
  ☆62Updated 8 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…
  ☆125Updated 5 years ago
• Clinical-Genomics / genmod
  Annotate models of genetic inheritance patterns in variant files (vcf files)
  ☆79Updated last month
• zwdzwd / transvar
  TransVar - multiway annotator for precision medicine
  ☆125Updated 2 years ago
• charite / jannovar
  Annotation of VCF variants with functional impact and from databases (executable+library)
  ☆59Updated this week
• Ensembl / VEP_plugins
  Plugins for the Ensembl Variant Effect Predictor (VEP)
  ☆148Updated last week
• CCDG / Pipeline-Standardization
  ☆82Updated 6 years ago
• Illumina / Cyrius
  A tool to genotype CYP2D6 with WGS data
  ☆53Updated last year
• OpenGene / GeneFuse
  Gene fusion detection and visualization
  ☆126Updated 3 years ago
• genome-in-a-bottle / giab_latest_release
  This repository contains information about latest release from Genome in a Bottle project
  ☆74Updated 5 years ago
• PapenfussLab / gridss
  GRIDSS: the Genomic Rearrangement IDentification Software Suite
  ☆268Updated 2 weeks ago
• galaxyproject / bioblend
  A Python library for interacting with the Galaxy API
  ☆90Updated last week
• imgag / ClinCNV
  Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data
  ☆85Updated 4 months ago
• Clinical-Genomics / MIP
  Mutation Identification Pipeline. Read the latest documentation:
  ☆44Updated last year
• hall-lab / svtools
  Tools for processing and analyzing structural variants.
  ☆151Updated 3 years ago
• ComparativeGenomicsToolkit / hal
  Hierarchical Alignment Format
  ☆168Updated 5 months ago
• imgag / megSAP
  a Medical Genetics Sequence Analysis Pipeline
  ☆83Updated this week
• compbiocore / VariantVisualization.jl
  Julia package powering VIVA, our tool for visualization of genomic variation data. Manual:
  ☆86Updated last year
• ewels / AWS-iGenomes
  Documentation and description of AWS iGenomes S3 resource.
  ☆114Updated 5 months ago
• ExpressionAnalysis / ea-utils
  Automatically exported from code.google.com/p/ea-utils
  ☆96Updated last year
• nunofonseca / irap
  integrated RNA-seq Analysis Pipeline
  ☆84Updated 6 years ago
• fls-bioinformatics-core / genomics
  Scripts, utilities and programs for genomic bioinformatics.
  ☆83Updated 2 weeks ago