Summary
DECIPHER is a free web-based platform which enables the visualisation of genomic and phenotypic relationships to aid variant interpretation, diagnosis, and discovery. The platform supports the interpretation and sharing of almost all types of genetic variation, providing variant interpretation interfaces which contextualise the genotypic and phenotypic data. These interfaces include a genome browser, protein browser, matching patient variant displays, and tools to assess the variant according to internationally-accepted standards. Potential matching patients in other connected databases can also be identified through the MME. The platform enables the flexible and proportionate sharing of patient-level data, so that the depth and breadth of sharing is tailored to the scientific/clinical needs and the level of patient consent attained. DECIPHER currently openly shares ~40,000 rare disease patient records, and supports the more limited sharing of >63,000. DECIPHER is under continuous development, ensuring that it keeps up to date with the fast moving field of rare genetic disease. New user-facing features are released approximately every six weeks, along with updates to reference data sources (such as the Ensembl/GENCODE gene set, HPO, ClinVar). DECIPHER enables clinical use of selected new datasets and tools developed by the research community. This makes them directly available to clinicians and clinical scientists, thereby assisting in the rapid translation of research into the diagnostic arena. Since its inception in 2004, the platform has made a huge impact on rare genetic disease research, and is cited in more than 2,600 publications. The rich phenotype-linked variant data hosted by DECIPHER, and the tools it provides, enable DECIPHER to advance its mission of mapping the clinically relevant parts of the genome.