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.
☆125Updated 5 years ago
Alternatives and similar repositories for clinvar
Users that are interested in clinvar are comparing it to the libraries listed below
Sorting:
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- HGVS variant name parsing and generation☆174Updated 2 years ago
- ☆178Updated 2 years ago
- A tool set for short variant discovery in genetic sequence data.☆197Updated 4 years ago
- A modular annotation tool for genomic variants☆124Updated last week
- MyVariant.info: A BioThings API for human variant annotations☆95Updated last month
- VarDict☆198Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆196Updated 2 years ago
- MuTect -- Accurate and sensitive cancer mutation detection☆97Updated 2 years ago
- Finder of Somatic Fusion Genes in RNA-seq data☆146Updated 2 years ago
- List of gene lists for genomic analyses.☆221Updated 3 years ago
- Documentation and description of AWS iGenomes S3 resource.☆114Updated 6 months ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆150Updated 2 weeks ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆241Updated 8 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆377Updated last year
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆160Updated 2 years ago
- ENCODE Uniform processing pipeline for ChIP-seq☆123Updated 5 years ago
- A flexible framework for rapid genome analysis and interpretation☆317Updated 2 years ago
- Software program for checking sample matching for NGS data☆132Updated last year
- A structural variation pipeline for short-read sequencing☆189Updated this week
- Library for manipulating genomic variants and predicting their effects☆84Updated 11 months ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆77Updated 5 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆202Updated 4 years ago
- Microassembly based somatic variant caller for NGS data☆154Updated 3 years ago
- Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing☆133Updated 5 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆162Updated 10 months ago
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆152Updated 4 months ago
- Browser for ExAC consortium data☆106Updated 3 years ago
- A tool for bigWig files.☆119Updated 7 years ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago