CompleX: Variant Prioritization in Complex Disease

Semantic methods for prioritising causative variants in complex (polygenic / oligogenic) disease using phenotype ontologies and gene network embeddings.

Start: 2019
End: 2021
Tags: machine learning, ontologies, complex disease, rare disease, variant prioritization, semantic similarity, phenotype reasoning

Connections

funded by `borg:fundedBy`

CompleX: Variant Prioritization in Complex Disease

team `borg:hasMember`

publications `borg:producedPub`

research topics `borg:topic`

Referenced by

on project `borg:onProject`

from project `borg:fromProject`

related projects `borg:linkedProject`

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JSON-LD (this resource)

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  "borg:startYear": 2019,
  "borg:endYear": 2021,
  "schema:abstract": "Semantic methods for prioritising causative variants in complex (polygenic / oligogenic) disease using phenotype ontologies and gene network embeddings.",
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}

Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.

Connections

funded by borg:fundedBy

team borg:hasMember

publications borg:producedPub

research topics borg:topic