jeremymcrae / hpo_similarityLinks
Analysis of similarity of HPO terms in groups of individuals
☆25Updated 3 years ago
Alternatives and similar repositories for hpo_similarity
Users that are interested in hpo_similarity are comparing it to the libraries listed below
Sorting:
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated last month
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆80Updated 2 weeks ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- Python library for extracting HPO encoded phenotypes from text☆30Updated last year
- Public repository for VariantValidator project☆76Updated last week
- Repo for downloading and storing OMIM data☆19Updated 8 years ago
- Universal Transcript Archive: comprehensive genome-transcript alignments; multiple transcript sources, versions, and alignment methods; a…☆66Updated 3 months ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆59Updated this week
- ☆68Updated 3 years ago
- HGVS variant nomenclature checker☆98Updated 2 years ago
- Read visualizer for structural variants☆84Updated 6 years ago
- Phenotype driven gene prioritization for HPO☆46Updated 3 years ago
- ☆54Updated 5 years ago
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- MyVariant.info: A BioThings API for human variant annotations☆95Updated last month
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- A collection of reusable WDL tasks. Category:Other☆87Updated this week
- HTML5 scrollable genome browser☆110Updated last year
- ☆57Updated 5 years ago
- PathOS is a clinical application for filtering, analysing and reporting on NGS variants☆29Updated 4 years ago
- Call regions of homozygosity and make tentative UPD calls☆11Updated 3 weeks ago
- Bioinformatics tool outputs converter to JSON or YAML☆36Updated last month
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆45Updated last year
- ☆32Updated 6 months ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- A modular annotation tool for genomic variants☆125Updated last month
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago