PharmGKB / PharmCAT
The Pharmacogenomic Clinical Annotation Tool
☆120Updated this week
Related projects ⓘ
Alternatives and complementary repositories for PharmCAT
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆122Updated 4 years ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆255Updated 10 months ago
- ☆174Updated last year
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆299Updated 5 months ago
- ☆252Updated last week
- A Python package for pharmacogenomics (PGx) research☆65Updated 3 months ago
- A structural variation pipeline for short-read sequencing☆171Updated this week
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆141Updated this week
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆142Updated last week
- The nimble & robust variant annotator☆171Updated 6 months ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆80Updated this week
- Annotation and Ranking of Structural Variation☆217Updated 2 months ago
- Call and score variants from WGS/WES of rare disease patients.☆87Updated this week
- Count bases in BAM/CRAM files☆305Updated 2 years ago
- Workflows for germline short variant discovery with GATK4☆133Updated 3 years ago
- Various algorithms for analysing genomics data☆194Updated this week
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆30Updated 5 months ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆188Updated 3 years ago
- GWAS Pipeline for H3Africa☆106Updated last month
- VarDict☆187Updated 10 months ago
- Long read production pipelines☆141Updated this week
- TransVar - multiway annotator for precision medicine☆118Updated last year
- Finder of Somatic Fusion Genes in RNA-seq data☆141Updated last year
- Precision HLA typing from next-generation sequencing data☆188Updated 8 months ago
- This Snakemake pipeline implements the GATK best-practices workflow☆242Updated last year
- ☆81Updated 5 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆366Updated 11 months ago
- VarDict Java port☆129Updated 10 months ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆153Updated last year
- A tool set for short variant discovery in genetic sequence data.☆192Updated 3 years ago
- Browser for ExAC consortium data☆106Updated 2 years ago