A Tool to Annotate and Prioritize Exome Variants
☆265Aug 3, 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☆47Jun 18, 2026Updated 3 months ago
- A framework for empirical evaluation of phenotype matching and prioritisation☆20Sep 2, 2026Updated 2 weeks ago
- Repository for the GA4GH phenopacket schema☆101Sep 1, 2026Updated 2 weeks ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆75Jun 26, 2023Updated 3 years ago
- Phenotype driven gene prioritization for HPO☆53Jul 26, 2021Updated 5 years ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated 2 years ago
- Repository for representing genotypes and their association with phenotypes☆20Feb 2, 2026Updated 7 months ago
- Annotation and Ranking of Structural Variation☆310Aug 11, 2026Updated last month
- phenol: Phenotype ontology library☆26Jun 30, 2026Updated 2 months ago
- ☆17Aug 1, 2026Updated last month
- Data transformation framework for LinkML data models☆72Updated this week
- source files for OBA (Ontology of Biological Attributes)☆31Updated this week
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆213May 28, 2023Updated 3 years ago
- genetic variant expressions, annotation, and filtering for great good.☆275May 12, 2026Updated 4 months ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- structural variant calling and genotyping with existing tools, but, smoothly.☆266Jun 17, 2024Updated 2 years ago
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆20Jun 15, 2026Updated 3 months ago
- ☆57Jan 11, 2023Updated 3 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆42Apr 22, 2026Updated 4 months ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆41Nov 21, 2022Updated 3 years ago
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆236Feb 17, 2022Updated 4 years ago
- A tool for estimating repeat sizes☆218Jan 30, 2024Updated 2 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆83Jun 30, 2025Updated last year
- Structural variant and indel caller for mapped sequencing data☆467Oct 11, 2025Updated 11 months ago
- End-to-end encrypted email - Proton Mail • AdSpecial offer: 40% Off Yearly / 80% Off First Month. All Proton services are open source and independently audited for security.
- A package to transform all OBO ontologies into KGX TSV format and OBO json, and put the transformed graph in KGhub☆34Mar 19, 2024Updated 2 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- ☆12Jun 19, 2026Updated 3 months ago
- web-based analysis tool for rare disease genomics☆219Updated this week
- Bayes OWL Ontology Merging☆25Oct 3, 2024Updated last year
- Medical action ontology☆66Updated this week
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆572Updated this week
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆35Jan 16, 2024Updated 2 years ago
- Ontology for the description of human clinical features☆373Sep 3, 2026Updated 2 weeks ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- ☆26Aug 7, 2019Updated 7 years ago
- A simple script to create a customizable html file from an AnnotSV output.☆23Apr 20, 2026Updated 5 months ago
- Utility for working with DOSDP design patterns and OWL ontologies☆33May 21, 2026Updated 3 months ago
- Bayesian OWL ontology merging☆37Jun 4, 2025Updated last year
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 4 years ago
- The phenogrid widget☆14Mar 4, 2023Updated 3 years ago
- LLM retrieval augmented generation agent for the Monarch Knowledge graph.☆28Sep 17, 2025Updated last year