PharmGKB / PharmCATLinks
The Pharmacogenomic Clinical Annotation Tool
☆150Updated 3 weeks ago
Alternatives and similar repositories for PharmCAT
Users that are interested in PharmCAT are comparing it to the libraries listed below
Sorting:
- Documentation and description of AWS iGenomes S3 resource.☆118Updated last year
- The nimble & robust variant annotator☆188Updated last year
- 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
- ☆185Updated 2 years ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆162Updated last week
- A Python package for pharmacogenomics (PGx) research☆81Updated 3 weeks ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆208Updated 4 years ago
- A structural variation pipeline for short-read sequencing☆196Updated last week
- TransVar - multiway annotator for precision medicine☆125Updated 2 years ago
- VarDict☆201Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆204Updated 2 years ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆280Updated 6 months ago
- MuTect -- Accurate and sensitive cancer mutation detection☆101Updated 2 years ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆159Updated 3 years ago
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆162Updated 3 months ago
- A Tool to Annotate and Prioritize Exome Variants☆232Updated 2 weeks ago
- Annotates variants in MAF with OncoKB annotation.☆136Updated 4 months ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆165Updated 2 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆201Updated 4 months ago
- Call and score variants from WGS/WES of rare disease patients.☆112Updated this week
- Gene fusion detection and visualization☆127Updated 3 years ago
- GATK RNA-Seq Variant Calling in Nextflow☆137Updated 2 years ago
- A modular annotation tool for genomic variants☆139Updated this week
- Finder of Somatic Fusion Genes in RNA-seq data☆148Updated 3 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 2 months ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- A tool set for short variant discovery in genetic sequence data.☆203Updated 4 years ago
- Various algorithms for analysing genomics data☆255Updated this week
- Documentation for the ANNOVAR software☆245Updated 4 months ago
- Personal Cancer Genome Reporter (PCGR)☆273Updated 2 months ago