PharmGKB / PharmCATLinks
The Pharmacogenomic Clinical Annotation Tool
☆145Updated last week
Alternatives and similar repositories for PharmCAT
Users that are interested in PharmCAT are comparing it to the libraries listed below
Sorting:
- The nimble & robust variant annotator☆184Updated last year
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆159Updated last week
- Documentation and description of AWS iGenomes S3 resource.☆116Updated 8 months ago
- ☆180Updated 2 years ago
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆156Updated last week
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆155Updated 3 years ago
- A Python package for pharmacogenomics (PGx) research☆76Updated 6 months ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- A modular annotation tool for genomic variants☆127Updated this week
- MuTect -- Accurate and sensitive cancer mutation detection☆100Updated 2 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆197Updated 2 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆197Updated 3 weeks ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆204Updated 4 years ago
- GWAS Pipeline for H3Africa☆111Updated 3 months ago
- NGS-pipe: next-generation sequencing pipelines for precision oncology☆114Updated 6 years ago
- List of gene lists for genomic analyses.☆222Updated 3 years ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated 3 months ago
- A structural variation pipeline for short-read sequencing☆192Updated last week
- ☆288Updated 6 months ago
- GATK RNA-Seq Variant Calling in Nextflow☆135Updated 2 years ago
- Detect germline or somatic variants from normal or tumour/normal whole-genome or targeted sequencing☆133Updated 5 years ago
- Call and score variants from WGS/WES of rare disease patients.☆107Updated last week
- Various algorithms for analysing genomics data☆241Updated this week
- Precision HLA typing from next-generation sequencing data☆202Updated last year
- VarDict☆198Updated last year
- Copy number calling and variant classification using targeted short read sequencing☆138Updated 4 months ago
- Count bases in BAM/CRAM files☆319Updated 3 years ago
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- a Medical Genetics Sequence Analysis Pipeline☆84Updated this week
- VarDict Java port☆135Updated last year