DATABASE OF GENOMIC VARIATION AND PHENOTYPE IN HUMANS USING ENSEMBL RESOURCES (DECIPHER)

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient. The patient’s variant is displayed in the context of both normal variation and pathogenic variation reported at that locus thereby facilitating interpretation.. DECIPHER is an IRDIRC recognized resource.

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DatabasE of genomiC varIation and Phenotype in Humans

Provided by DATABASE OF GENOMIC VARIATION AND PHENOTYPE IN HUMANS USING ENSEMBL RESOURCES (DECIPHER)

Decipher

DECIPHER is a clinical and research tool used by the clinical community to share and compare phenotypic and genotypic data and to
1. Aid in the interpretation of data from genome-wide analyses e.g. the differentiation between pathogenic and benign genomic variants.
2. Utilise the human reference sequence via Ensembl and other genome browsers to define which genes are involved in a specific structural variant (e.g. copy number variant) and for smaller variants (e.g. sequence variants), whether they are positioned within a gene or regulatory element and predict their likely consequence.
3. Facilitate research into the study of genes that affect human health and development to define new gene-disease and variant-disease associations and to improve diagnosis, management and therapy of rare diseases.

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