Exomiser

Category

Data & Standards

Subcategory

unknown

License

AGPL-3.0(osi)

Status

active

Maturity

deployed

Organization

exomiser

Country

unknown

Homepage

exomiser.readthedocs.io

Repository

github.com/exomiser/Exomiser

Documentation

unknown

Tags

analysis · exome · genomics · monarchinitiative · phenotypes · variants

Regulatory

unknown

• julesjacobsen
• damiansm
• holtgrewe
• visze
• iQuxLE
• buske

Top contributors by commit count, from the project’s public repository. Avatars are served by their origin, not stored here. To be removed from this list, open an issue.

Computed from shared tags, weighted so a rare tag counts for more than a common one. These are suggestions, not curated relationships.

• cell-ontologygenomics · monarchinitiative

  An ontology of cell types

• kovergenomics · phenotypes

  Learn interpretable computational phenotyping models from k-merized genomic data

• loinc2hpomonarchinitiative

  Java library to map LOINC-encoded test results to Human Phenotype Ontology

• Exome-Analysis-End-to-ENDexome

  Automated end to end NGS exome analysis pipeline. One command from FASTQ to fully annotated variants with QC, alignment, GATK calling, ANNOVAR and snpEff annotation, functional classification, and…

• codelist-toolsphenotypes

  This is a set of useful tools for using, creating, validating and generally working with Codelists in Health Research. The tools are in Rust with Python and R bindings so they can be used in any of…

• epigraphdb-rphenotypes

  R package for epigraphdb

1. api.github.com/repos/exomiser/Exomiser
   retrieved 2026-08-05 · via github-api

   Machine-imported from GitHub search. Last push 2026-08-03, 262 stars, license reported as AGPL-3.0. Category and schematic were assigned by keyword heuristics and are unreviewed.

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/v1/entries/7.json→ .entries["exomiser"]

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