drseb / HPO-translationsLinks
Internationalisation of the HPO content
☆19Updated 2 years ago
Alternatives and similar repositories for HPO-translations
Users that are interested in HPO-translations are comparing it to the libraries listed below
Sorting:
- Repository for the GA4GH phenopacket schema☆90Updated last week
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆28Updated this week
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last week
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- Analysis of similarity of HPO terms in groups of individuals☆25Updated 3 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated last week
- ☆32Updated 10 months ago
- Repo for downloading and storing OMIM data☆19Updated 9 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆39Updated 2 years ago
- OHMI: The Ontology of Host-Microbiome Interactions☆12Updated 3 years ago
- Human Phenotype Ontology Workbench☆21Updated 2 years ago
- Pedigree drawing with ease☆24Updated 3 years ago
- A Tool to Annotate and Prioritize Exome Variants☆233Updated last week
- An information model for representing variant annotations.☆24Updated this week
- PharmGKB NGS Pipeline☆19Updated 7 years ago
- Collect of SO Ontologies☆101Updated 2 months ago
- a web application to search and navigate the Human Phenotype Ontology (HPO)☆14Updated last month
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated 3 months ago
- Generic Interactive Variant Analysis browser☆29Updated 3 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated last month
- MyVariant.info: A BioThings API for human variant annotations☆96Updated 2 months ago
- hail-based pipelines for annotating variant callsets and exporting them to elasticsearch☆23Updated this week
- Collection of notes and scripts related to NGS☆14Updated 9 months ago
- the GMOD database schema☆42Updated last year
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆128Updated 5 years ago
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆103Updated 3 years ago
- dbVar☆40Updated 3 years ago
- Phenotype driven gene prioritization for HPO☆50Updated 4 years ago
- Web client for CIViC: Clinical Interpretations of Variants in Cancer☆50Updated last year
- phenotype-based prioritization of candidate genes for human diseases☆65Updated 2 years ago