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.