Abstract and Keywords
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.
Rare Diseases; Genetic Disorders; Genotype Phenotype Correlation;
Variant Interpretation; MatchMaker Exchange