DECIPHER
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is a web-based platform, hosted at the Wellcome Sanger Institute, that aggregates and shares anonymized clinical and genomic data on submicroscopic chromosomal imbalances and other genomic variants in patients with rare developmental and genetic disorders. It links genomic variants to associated phenotypes (using Human Phenotype Ontology terms) to support interpretation of variant pathogenicity and clinical diagnosis. DECIPHER integrates Ensembl genome resources and an international consortium of clinical genetics centers. It is an upstream data source for the SRI-Reference Knowledge Graph and the Monarch Initiative.
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Firth", "Shola M. Richards", "A. Paul Bevan", "Stephen Clayton", "Manuel Corpas", "Diana Rajan", "Steven Van Vooren", "Yves Moreau", "Roger M. Pettett", "Nigel P. Carter"], "doi": "10.1016/j.ajhg.2009.03.010", "id": "https://pubmed.ncbi.nlm.nih.gov/19344873/", "journal": "Am J Hum Genet", "preferred": true, "title": "DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources", "year": "2009"}]}