web-based analysis tool for rare disease genomics
☆202Mar 17, 2026Updated last 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 elasticsearch☆23Mar 17, 2026Updated last week
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆88Mar 16, 2026Updated last week
- Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.☆12Jun 2, 2022Updated 3 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆399Aug 30, 2025Updated 6 months ago
- BrowseVCF is a web-based application and workflow to quickly prioritise disease-causative variants in VCF files.☆47Jun 26, 2020Updated 5 years ago
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆33Jul 6, 2022Updated 3 years ago
- genetic variant expressions, annotation, and filtering for great good.☆274Dec 15, 2025Updated 3 months 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☆207May 28, 2023Updated 2 years ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆131Feb 13, 2020Updated 6 years ago
- A Tool to Annotate and Prioritize Exome Variants☆248Updated this week
- a lightweight db framework for exploring genetic variation.☆326Apr 28, 2020Updated 5 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Variant Effect Prediction for Python☆16Apr 5, 2017Updated 8 years ago
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Mar 30, 2021Updated 4 years ago
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆105May 3, 2022Updated 3 years ago
- Personal Cancer Genome Reporter (PCGR)☆274Mar 17, 2026Updated last week
- 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
- Cloud-native genomic dataframes and batch computing☆1,050Updated this week
- Generic Interactive Variant Analysis browser☆29Apr 12, 2022Updated 3 years ago
- Chanjo provides a better way to analyze coverage data in clinical sequencing.☆50Feb 9, 2026Updated last month
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 3 years ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 5 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Feb 12, 2022Updated 4 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆334May 27, 2025Updated 9 months ago
- Warp Analysis Research Pipelines☆225Updated this week
- ☆191Jun 20, 2023Updated 2 years ago
- Explore gnomAD datasets on the web☆87Updated this week
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Feb 10, 2026Updated last month
- Canvas - Copy number variant (CNV) calling from DNA sequencing data☆128Sep 3, 2019Updated 6 years ago
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆305Nov 14, 2025Updated 4 months ago
- 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.☆99Jun 22, 2022Updated 3 years ago
- MyVariant.info: A BioThings API for human variant annotations☆98Sep 10, 2025Updated 6 months ago
- Generic human DNA variant annotation pipeline☆60Feb 13, 2024Updated 2 years ago
- Allele frequency filter app☆14May 4, 2022Updated 3 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 8 years 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
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago