This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions for software installs.
☆18Mar 20, 2023Updated 3 years ago
Alternatives and similar repositories for AnnotateVariants
Users that are interested in AnnotateVariants are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Welcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees…☆26Nov 14, 2022Updated 3 years ago
- scRNA数据分析中文教程☆11Jul 29, 2019Updated 6 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- Browser for ExAC consortium data☆12Oct 23, 2017Updated 8 years ago
- A collection of scripts to run GWAS, regional, gene-oriented, or per-variant analyses.☆18Jan 21, 2026Updated 2 months ago
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 4 months ago
- Generic human DNA variant annotation pipeline☆60Feb 13, 2024Updated 2 years ago
- Deprecated, see https://labsyspharm.github.io/rnaseq/☆12Feb 28, 2019Updated 7 years ago
- Burden testing against public controls☆49Feb 27, 2024Updated 2 years ago
- PREFACE -- PREdict FetAl ComponEnt☆15Jan 2, 2026Updated 2 months ago
- A repository containing various scripts useful for performing quality control on data from genome-wide association studies and visualizin…☆20Oct 14, 2017Updated 8 years ago
- As part of the COVID-19 Host Genetics Global initative, this repo serves to corroborate sample scripts for sequencing QC.☆12Jul 30, 2020Updated 5 years ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆19Oct 27, 2021Updated 4 years ago
- A Shiny tool to define the cell-type of action by integrating single cell expression data with GWAS☆12Nov 1, 2018Updated 7 years ago
- Wordpress hosting with auto-scaling on Cloudways • AdFully Managed hosting built for WordPress-powered businesses that need reliable, auto-scalable hosting. Cloudways SafeUpdates now available.
- 180+ Java applications for analyzing next generation sequencing data from ChIPSeq, RNASeq, BisSeq, DNASeq, variant annotation/ filtering,…☆18Feb 19, 2026Updated last month
- ☆15Apr 10, 2024Updated last year
- All data and notebook for my 2020 scRNA-seq analysis workshop☆18Jul 27, 2020Updated 5 years ago
- A loose collection of scripts and utilities for processing and analyzing the Goat reference genome assembly☆11Feb 28, 2017Updated 9 years ago
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Mar 16, 2026Updated last week
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated last month
- A pan-cancer genome-wide analysis reveals tumour dependencies by induction of nonsense-mediated decay☆15Nov 2, 2020Updated 5 years ago
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- GWAS SNP Regulatory Analysis Tool☆17Mar 19, 2015Updated 11 years ago
- GPU virtual machines on DigitalOcean Gradient AI • AdGet to production fast with high-performance AMD and NVIDIA GPUs you can spin up in seconds. The definition of operational simplicity.
- ☆17Jul 13, 2021Updated 4 years ago
- Cool Bioinformatics Scripts☆12May 21, 2024Updated last year
- Fork of ricopili for development of pipeline for family-based data☆19Jun 22, 2025Updated 9 months ago
- TOPMed analysis pipeline☆52Oct 10, 2023Updated 2 years ago
- JARVIS: a comprehensive deep learning framework to prioritise non-coding variants in whole genomes☆25Jan 8, 2025Updated last year
- Functional code templates for the Star Protocols paper describing consolidated WES variant calling with 3 callers☆10Oct 18, 2024Updated last year
- Whole exome sequencing pipeline including advanced variant annotation features and automated PDF reporting.☆17Jan 29, 2026Updated 2 months ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Mar 4, 2019Updated 7 years ago
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆21Jan 4, 2026Updated 2 months ago
- End-to-end encrypted email - Proton Mail • AdSpecial offer: 40% Off Yearly / 80% Off First Month. All Proton services are open source and independently audited for security.
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Dec 18, 2025Updated 3 months ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- Nextflow pipeline for BWA, BWA2 and STAR alignments☆12Jul 22, 2024Updated last year
- This is a repository to help make plots similar to Figure 2 in https://www.biorxiv.org/content/10.1101/388165v3☆13Mar 14, 2019Updated 7 years ago
- TFFM framework☆13Sep 22, 2025Updated 6 months ago
- ☆13Feb 19, 2021Updated 5 years ago