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Exomiser

imported

data/exomiser

A Tool to Annotate and Prioritize Exome Variants

Machine-generated from the listed sources and not yet reviewed by a human.

record
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
built by · 6

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.

similar by tags

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

  • 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…

  • NAVIPgenomics · variants

    Neighborhood-Aware Variant Impact Predictor

  • variantstore-servicegenomics · variants

    The Variantstore is a Java/Groovy-based service application implemented using the Micronaut framework and enables storage and access to information on genomic variants and metadata from a connected…

  • 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

sources
  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.

Not yet verified by a human. Correct this record →

machine-readable

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

Entries are sharded 64 ways by a stable hash of the id, so a consumer can find any record without an index.