4.7 Article

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Journal

BIOINFORMATICS
Volume 33, Issue 15, Pages 2421-2423

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btx147

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Funding

  1. UKIRDC
  2. R.P. Fighting Blindness and Fight for Sight
  3. BBSRC [1759459] Funding Source: UKRI

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Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.

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