Alternatives and similar repositories for clinvar

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

• kircherlab / CADD-scripts
  CADD scripts release for offline scoring. For more information about CADD, please visit our website
  ☆89Updated last month
• DiltheyLab / HLA-LA
  Fast HLA type inference from whole-genome data
  ☆141Updated 8 months ago
• nf-core / raredisease
  Call and score variants from WGS/WES of rare disease patients.
  ☆112Updated this week
• sbslee / pypgx
  A Python package for pharmacogenomics (PGx) research
  ☆81Updated last month
• KarchinLab / open-cravat
  A modular annotation tool for genomic variants
  ☆139Updated this week
• EBIvariation / CMAT
  ClinVar Mapping and Annotation Toolkit
  ☆20Updated 3 weeks ago
• iobio / gene.iobio
  Gene.iobio vue
  ☆65Updated 3 weeks ago
• nf-core / configs
  Config files used to define parameters specific to compute environments at different Institutions
  ☆104Updated this week
• nf-core / smrnaseq
  A small-RNA sequencing analysis pipeline
  ☆98Updated last week
• tkzeng / Pangolin
  Pangolin is a deep-learning method for predicting splice site strengths.
  ☆82Updated last year
• nextflow-io / rnaseq-nf
  A proof of concept of RNAseq pipeline
  ☆81Updated last month
• griffithlab / pVACtools
  ☆165Updated last week
• ga4gh / vrs
  Extensible specification for representing and uniquely identifying biological sequence variation
  ☆94Updated last week
• ncsa / NEAT
  NEAT (NExt-generation Analysis Toolkit) simulates next-gen sequencing reads and can learn simulation parameters from real data.
  ☆65Updated this week
• ga4gh / va-spec
  An information model for representing variant annotations.
  ☆25Updated last week
• htseq / htseq
  HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing (HTS) experiments.
  ☆107Updated 6 months ago
• nf-core / test-datasets
  Test data to be used for automated testing with the nf-core pipelines
  ☆144Updated this week
• oncokb / oncokb-annotator
  Annotates variants in MAF with OncoKB annotation.
  ☆137Updated this week
• igvteam / igv-webapp
  IGV Web App
  ☆126Updated this week
• gagneurlab / drop
  Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders
  ☆157Updated 3 weeks ago
• nf-core / oncoanalyser
  A comprehensive cancer DNA/RNA analysis and reporting pipeline
  ☆97Updated last week
• gatk-workflows / gatk4-somatic-snvs-indels
  This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…
  ☆78Updated 5 years ago
• PharmGKB / PharmCAT
  The Pharmacogenomic Clinical Annotation Tool
  ☆150Updated 3 weeks ago
• Ensembl / VEP_plugins
  Plugins for the Ensembl Variant Effect Predictor (VEP)
  ☆162Updated this week
• gatk-workflows / broad-prod-wgs-germline-snps-indels
  Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…
  ☆56Updated 5 years ago
• mutalyzer / mutalyzer
  Tool suite for HGVS variant descriptions
  ☆47Updated this week
• broadinstitute / gnomad_methods
  Hail helper functions for the gnomAD project and Translational Genomics Group
  ☆97Updated this week
• snugel / cas-offinder
  An ultrafast and versatile algorithm that searches for potential off-target sites of CRISPR/Cas-derived RNA-guided endonucleases.
  ☆95Updated 3 years ago
• Illumina / PromoterAI
  ☆81Updated 3 weeks ago
• SBIMB / StellarPGx
  Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
  ☆34Updated last month