macarthur-lab / clinvarLinks
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
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- HGVS variant name parsing and generation☆176Updated 2 years ago
- ☆185Updated 2 years ago
- MuTect -- Accurate and sensitive cancer mutation detection☆101Updated 2 years ago
- TransVar - multiway annotator for precision medicine☆125Updated 2 years ago
- NGS-pipe: next-generation sequencing pipelines for precision oncology☆114Updated 6 years ago
- Documentation and description of AWS iGenomes S3 resource.☆118Updated last year
- Browser for ExAC consortium data☆106Updated 3 years ago
- Simple FASTQ quality assessment using Python☆108Updated 4 years ago
- Microassembly based somatic variant caller for NGS data☆154Updated 3 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 3 months ago
- genotype :: ped correspondence check, ancestry check, sex check. directly, quickly on VCF☆144Updated 4 months ago
- MyVariant.info: A BioThings API for human variant annotations☆96Updated 2 months ago
- Dockerised Next Generation Sequencing Pipeline (QC, Align, Calling, Annotation)☆86Updated 8 years ago
- A tool set for short variant discovery in genetic sequence data.☆203Updated 4 years ago
- VarDict☆201Updated last year
- A modular annotation tool for genomic variants☆139Updated this week
- Finder of Somatic Fusion Genes in RNA-seq data☆148Updated 3 months ago
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- List of gene lists for genomic analyses.☆223Updated 3 years ago
- A powerful toolset for genome arithmetic.☆142Updated 4 years ago
- Analysis pipeline for the GUIDE-seq assay.☆80Updated 2 years ago
- Tools for early stage alignment file processing☆95Updated 6 years ago
- The Pharmacogenomic Clinical Annotation Tool☆150Updated 2 weeks ago
- Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing☆133Updated 5 years ago
- Biopieces is a bioinformatic framework of tools easily used and easily created.☆144Updated 7 years ago
- python access to UCSC genomes database☆136Updated 5 years ago
- HGVS variant nomenclature checker☆98Updated 2 years ago
- 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
- ☆69Updated 3 years ago