A Tool to Annotate and Prioritize Exome Variants
☆258Apr 1, 2026Updated last month
Alternatives and similar repositories for Exomiser
Users that are interested in Exomiser are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆41Apr 9, 2026Updated 3 weeks ago
- Repository for the GA4GH phenopacket schema☆98Mar 30, 2026Updated last month
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 2 years ago
- Repository for representing genotypes and their association with phenotypes☆20Feb 2, 2026Updated 2 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- phenol: Phenotype ontology library☆25Dec 5, 2025Updated 4 months ago
- Data transformation framework for LinkML data models☆64Apr 8, 2026Updated 3 weeks ago
- Annotation and Ranking of Structural Variation☆293Apr 16, 2026Updated 2 weeks ago
- Phenotype driven gene prioritization for HPO☆51Jul 26, 2021Updated 4 years ago
- source files for OBA (Ontology of Biological Attributes)☆29Jan 21, 2026Updated 3 months ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆207May 28, 2023Updated 2 years ago
- genetic variant expressions, annotation, and filtering for great good.☆274Dec 15, 2025Updated 4 months ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆264Jun 17, 2024Updated last year
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆17Mar 2, 2026Updated last month
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- ☆56Jan 11, 2023Updated 3 years ago
- Python Phenopacket Tools☆17Nov 3, 2025Updated 5 months ago
- A tool for estimating repeat sizes☆208Jan 30, 2024Updated 2 years ago
- A package to transform all OBO ontologies into KGX TSV format and OBO json, and put the transformed graph in KGhub☆33Mar 19, 2024Updated 2 years ago
- ☆26Aug 7, 2019Updated 6 years ago
- web-based analysis tool for rare disease genomics☆204Updated this week
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆41Apr 22, 2026Updated last week
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆235Feb 17, 2022Updated 4 years ago
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- Structural variant and indel caller for mapped sequencing data☆462Oct 11, 2025Updated 6 months ago
- Medical action ontology☆65Jan 15, 2026Updated 3 months ago
- Bayes OWL Ontology Merging☆24Oct 3, 2024Updated last year
- Utility for working with DOSDP design patterns and OWL ontologies☆31Dec 10, 2025Updated 4 months ago
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆34Jan 16, 2024Updated 2 years ago
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆545Apr 13, 2026Updated 2 weeks ago
- Bayesian OWL ontology merging☆36Jun 4, 2025Updated 10 months ago
- Ontology for the description of human clinical features☆353Apr 16, 2026Updated 2 weeks ago
- A simple script to create a customizable html file from an AnnotSV output.☆21Apr 20, 2026Updated last week
- 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.
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆78Jun 30, 2025Updated 10 months ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 3 years ago
- The phenogrid widget☆14Mar 4, 2023Updated 3 years ago
- LLM retrieval augmented generation agent for the Monarch Knowledge graph.☆28Sep 17, 2025Updated 7 months ago
- Structural variant toolkit for VCFs☆406Mar 21, 2026Updated last month
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆213Mar 16, 2026Updated last month