hail-based pipelines for annotating variant callsets and exporting them to clickhouse
☆23Jul 13, 2026Updated last week
Alternatives and similar repositories for seqr-loading-pipelines
Users that are interested in seqr-loading-pipelines are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- web-based analysis tool for rare disease genomics☆212Updated this week
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 7 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 7 years ago
- A visualization tool for Systems-Level Interactive Data Exploration☆12Jan 12, 2022Updated 4 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.
- A software toolkit for the interconversion of standard data models for phenotypic data☆16Updated this week
- Allele frequency filter app☆14May 4, 2022Updated 4 years ago
- Repository for the family history/pedigree project☆13Jun 17, 2026Updated last month
- ☆13May 2, 2018Updated 8 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 3 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- The open-source version of PhenoTips is no longer maintained.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 4 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆43Nov 21, 2022Updated 3 years ago
- Integrated Variant Caller☆17Mar 15, 2018Updated 8 years ago
- End-to-end encrypted cloud storage - Proton Drive • AdSpecial offer: 40% Off Yearly / 80% Off First Month. Protect your most important files, photos, and documents from prying eyes.
- Documentation and tutorials on using AWS for biomedical research☆19Jun 10, 2026Updated last month
- ☆11Jun 19, 2026Updated last month
- Variant to disease dataset workflows for Open Targets Genetics☆14May 11, 2026Updated 2 months ago
- a web application to search and navigate the Human Phenotype Ontology (HPO)☆15Jul 17, 2026Updated last week
- Exposing public genomics data via computable and searchable metadata☆13Jul 9, 2024Updated 2 years ago
- protobuf-pydantic-gen is a Python code generator that turns Protocol Buffer schemas into Pydantic and SQLModel models. It keeps protobuf …☆19Jun 28, 2026Updated 3 weeks ago
- A repository with scripts to run pipeline that are commonly used in the Meren Lab☆11Feb 7, 2018Updated 8 years ago
- GBIF machine-readable resources☆15Updated this week
- ☆36Mar 2, 2021Updated 5 years 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.
- BBC Wildlife ontology and data☆17Apr 2, 2026Updated 3 months ago
- SARS-CoV-2 Deep Sequencing☆14Apr 22, 2020Updated 6 years ago
- Structural Variant Index☆76Jul 1, 2026Updated 3 weeks ago
- Material for the RNAseq course☆10Aug 8, 2019Updated 6 years ago
- GenomicsDB☆109Jan 3, 2023Updated 3 years ago
- Linear time detection of Identity by Descent☆13Jul 22, 2011Updated 15 years ago
- deploy a snakemake pipeline directly from version control (under development)☆26Jun 18, 2026Updated last month
- ☆13Sep 2, 2024Updated last year
- Sequence Bloom Trees with All/Some split☆11Oct 30, 2018Updated 7 years 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.
- Detects human contamination in bam files☆16Sep 10, 2020Updated 5 years ago
- ☆14Jul 14, 2026Updated last week
- ☆13Jun 21, 2017Updated 9 years ago
- ☆11Dec 8, 2022Updated 3 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆17Aug 9, 2018Updated 7 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 8 years ago
- Lollipop-diagram to visualize genomic mutations☆20Sep 3, 2019Updated 6 years ago