The Pharmacogenomic Clinical Annotation Tool
☆170Feb 25, 2026Updated 2 months ago
Alternatives and similar repositories for PharmCAT
Users that are interested in PharmCAT are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- PharmGKB NGS Pipeline☆19Oct 2, 2018Updated 7 years ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆39Mar 9, 2026Updated 2 months ago
- A Python package for pharmacogenomics (PGx) research☆88Mar 22, 2026Updated 2 months ago
- CPIC Data definitions and code to use that data☆31May 14, 2026Updated last week
- A tool to genotype CYP2D6 with WGS data☆58Oct 14, 2023Updated 2 years ago
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆70Apr 14, 2026Updated last month
- PGxPOP☆18Jan 25, 2023Updated 3 years ago
- Structural variant pipeline☆18Jun 25, 2020Updated 5 years ago
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- The Polygenic Score Catalog Calculator is a nextflow pipeline for polygenic score calculation☆165May 14, 2026Updated last week
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- HaploGrep - mtDNA haplogroup classification. Supporting rCRS and RSRS.☆78Feb 28, 2023Updated 3 years ago
- Rapid and accurate ancestry inference using SNVs.☆28Aug 15, 2025Updated 9 months ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Fast HLA type inference from whole-genome data☆145Apr 3, 2025Updated last year
- Tools to convert Illumina IDAT/BPM/EGT/GTC and Affymetrix CEL/CHP files to VCF☆162Feb 26, 2026Updated 2 months ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆57Updated this week
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- ☆28Oct 5, 2018Updated 7 years ago
- ☆32Aug 9, 2021Updated 4 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- 💊🧬 PharMe - Pharmaceutical insights tailored to your personal genome☆23Aug 20, 2025Updated 9 months ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 10 months ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 6 years ago
- Classification of Single cells by Transfer Learning☆11Oct 11, 2025Updated 7 months ago
- Script to convert GTC/BPM files to VCF☆48Oct 13, 2025Updated 7 months ago
- genetic variant expressions, annotation, and filtering for great good.☆274May 12, 2026Updated last week
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆26Mar 26, 2026Updated last month
- Tools for the analysis of structural variation in genomes☆81Feb 23, 2026Updated 3 months ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Jun 30, 2025Updated 10 months ago
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆51Apr 9, 2021Updated 5 years ago
- VAPr: A Python package for NoSQL variant data storage, annotation and prioritization☆37Jun 30, 2021Updated 4 years ago
- AI Agents on DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Feb 3, 2022Updated 4 years ago
- A Tool to Annotate and Prioritize Exome Variants☆258Apr 1, 2026Updated last month
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 2 years ago
- Microsatellite instability (MSI) detection for tumor only data.☆114Apr 23, 2024Updated 2 years ago
- Method for detecting STR expansions from short-read sequencing data☆63Dec 15, 2021Updated 4 years ago
- Characterization of Germline variants☆101Mar 15, 2022Updated 4 years ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 4 years ago