googlegenomics / variant-annotation
Use cloud technology to annotate human sequence variants in parallel.
☆11Updated 3 years ago
Alternatives and similar repositories for variant-annotation:
Users that are interested in variant-annotation are comparing it to the libraries listed below
- Framework for running bioinformatic workflows and pipelines using the Google Pipelines API as the underlying task-runner.☆12Updated 8 years ago
- GWAS Catalog Ontology and Curation Infrastructure☆26Updated last week
- Repository for development of the genomic module of the CDM.☆20Updated 5 years ago
- Community-maintained list of resources that the CI4CC organization and the larger cancer informatics community have found useful or are d…☆22Updated 6 years ago
- SEQSpark documentation☆18Updated 4 years ago
- An information model for representing variant annotations.☆18Updated this week
- ☆13Updated 5 years ago
- a place for GA4GH-related wiki pages☆16Updated 7 years ago
- Python client for GA4GH htsget protocol☆15Updated 2 years ago
- Python Phenopacket Tools☆16Updated 2 months ago
- Examples for the Google Genomics Pipelines API.☆50Updated 7 years ago
- A library for manipulating bioinformatics sequencing formats in Apache Spark☆32Updated last month
- non-redundant, compressed, journalled, file-based storage for biological sequences☆40Updated 2 weeks ago
- Monarch web application and API☆42Updated 5 years ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆36Updated last year
- GA4GH Beacon specification.☆32Updated 2 years ago
- hail-based pipelines for annotating variant callsets and exporting them to elasticsearch☆23Updated this week
- Distributed execution of bioinformatics tools on Apache Spark. Apache 2 licensed.☆40Updated last month
- hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …☆18Updated 2 years ago
- WDL plugin for pytest☆48Updated last year
- GA4GH Variation Representation Python Implementation☆53Updated this week
- Toil workflows for common genomic pipelines☆33Updated 5 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆26Updated 2 months ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆87Updated last week
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆28Updated 4 years ago
- 🐳 Dockerfiles for bioinformatics tools☆16Updated last week
- ☆24Updated 4 years ago
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Updated 5 years ago
- http://bam.iobio.io☆46Updated 10 months ago