DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Authors
Publication Date
2022-06Journal Title
Hum Mutat
ISSN
1059-7794
Publisher
Hindawi Limited
Language
en
Type
Article
This Version
AO
VoR
Metadata
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Foreman, J., Brent, S., Perrett, D., Bevan, A. P., Hunt, S. E., Cunningham, F., Hurles, M. E., & et al. (2022). DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.. Hum Mutat https://doi.org/10.1002/humu.24340
Description
Funder: European Molecular Biology Laboratory; Id: http://dx.doi.org/10.13039/100013060
Abstract
DECIPHER (https://www.deciphergenomics.org) is a free web platform for sharing anonymized phenotype-linked variant data from rare disease patients. Its dynamic interpretation interfaces contextualize 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 study, 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.
Keywords
REVIEW, REVIEWS, genetic disorders, genomic medicine, genotype phenotype correlation, Matchmaker Exchange, rare diseases, variant interpretation, whole‐exome sequencing, whole‐genome sequencing
Sponsorship
Wellcome Trust (WT108749/Z/15/Z, WT200990/Z/16/Z, WT206194)
Identifiers
humu24340
External DOI: https://doi.org/10.1002/humu.24340
This record's URL: https://www.repository.cam.ac.uk/handle/1810/334316
Rights
Licence:
http://creativecommons.org/licenses/by/4.0/
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