DECIPHER: Supporting the interpretation and sharing of rare disease
phenotype-linked variant data to advance diagnosis and research
DECIPHER (https://www.deciphergenomics.org) is a free web platform for
sharing anonymised phenotype-linked variant data from rare disease
patients. Its dynamic interpretation interfaces contextualise genomic
and phenotypic data to enable more informed variant interpretation,
incorporating international standards for variant classification.
DECIPHER supports almost all types of germline and mosaic variation in
the nuclear and mitochondrial genome: sequence variants, short tandem
repeats, copy-number variants and large structural variants. Patient
phenotypes are deposited using Human Phenotype Ontology (HPO) terms,
supplemented by quantitative data, which is aggregated to derive
gene-specific phenotypic summaries. It hosts data from >250
projects from ~40 countries, openly sharing
~40,000 patient records containing >51,000
variants and >172,000 phenotype terms. The rich
phenotype-linked variant data in DECIPHER drives rare disease research
and diagnosis by enabling patient matching within DECIPHER and with
other resources, and has been cited in >2,600 publications.
In this paper, we describe the types of data deposited to DECIPHER, the
variant interpretation tools, and patient matching interfaces which make
DECIPHER an invaluable rare disease resource.