web-based analysis tool for rare disease genomics
☆219Sep 18, 2026Updated this week
Alternatives and similar repositories for seqr
Users that are interested in seqr are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- hail-based pipelines for annotating variant callsets and exporting them to clickhouse☆23Aug 6, 2026Updated last month
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆90Aug 18, 2026Updated last month
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Jun 2, 2022Updated 4 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆403Jun 16, 2026Updated 3 months ago
- BrowseVCF is a web-based application and workflow to quickly prioritise disease-causative variants in VCF files.☆47Jun 26, 2020Updated 6 years ago
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- genetic variant expressions, annotation, and filtering for great good.☆275May 12, 2026Updated 4 months ago
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆32Jul 6, 2022Updated 4 years ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Nov 19, 2019Updated 6 years ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆213May 28, 2023Updated 3 years ago
- A nextflow pipeline for calling CNVs in probe-enriched sequencing workflows☆14Aug 17, 2026Updated last month
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆130Feb 13, 2020Updated 6 years ago
- a lightweight db framework for exploring genetic variation.☆327Apr 28, 2020Updated 6 years ago
- A Tool to Annotate and Prioritize Exome Variants☆265Aug 3, 2026Updated last month
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Jul 1, 2026Updated 2 months ago
- Deploy to Railway using AI coding agents - Free Credits Offer • AdUse Claude Code, Codex, OpenCode, and more. Autonomous software development now has the infrastructure to match with Railway.
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆105May 3, 2022Updated 4 years ago
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Mar 30, 2021Updated 5 years ago
- Personal Cancer Genome Reporter (PCGR)☆283Updated this week
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆23Jul 23, 2026Updated 2 months ago
- Variant Effect Prediction for Python☆16Apr 5, 2017Updated 9 years ago
- Rapid and accurate ancestry inference using SNVs.☆30Aug 15, 2025Updated last year
- Cloud-native genomic dataframes and batch computing☆1,073Updated this week
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50May 8, 2026Updated 4 months ago
- Generic Interactive Variant Analysis browser☆29Apr 12, 2022Updated 4 years ago
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 11 months ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 4 years ago
- ☆202Jun 20, 2023Updated 3 years ago
- Explore gnomAD datasets on the web☆91Updated this week
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Feb 12, 2022Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆32Jul 3, 2026Updated 2 months ago
- Warp Analysis Research Pipelines☆230Updated this week
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆334Sep 9, 2026Updated 2 weeks ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆337May 27, 2025Updated last year
- 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.
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Apr 20, 2026Updated 5 months ago
- Generic human DNA variant annotation pipeline☆59Aug 11, 2026Updated last month
- MyVariant.info: A BioThings API for human variant annotations☆98Updated this week
- Canvas - Copy number variant (CNV) calling from DNA sequencing data☆129Apr 20, 2026Updated 5 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆31Feb 20, 2021Updated 5 years ago
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 9 years ago