European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, United Kingdom; email:
Wellcome Sanger Institute, Hinxton, United Kingdom.
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:151-176. doi: 10.1146/annurev-genom-102822-100509. Epub 2023 Jun 7.
DECIPHER (atabas of Genomi Varation and henotype in umans Using nsembl esources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. The platform sits at the boundary between genomic research and the clinical community. DECIPHER aims to ensure that the most up-to-date data are made rapidly available within its interpretation interfaces to improve clinical care. Newly integrated cardiac case-control data that provide evidence of gene-disease associations and inform variant interpretation exemplify this mission. New research resources are presented in a format optimized for use by a broad range of professionals supporting the delivery of genomic medicine. The interfaces within DECIPHER integrate and contextualize variant and phenotypic data, helping to determine a robust clinico-molecular diagnosis for rare-disease patients, which combines both variant classification and clinical fit. DECIPHER supports discovery research, connecting individuals within the rare-disease community to pursue hypothesis-driven research.
DECIPHER（利用 Ensembl 资源解码人类基因组变异和表型）分享来自遗传疾病患者的候选诊断变异和表型数据，以促进研究并改善罕见病的诊断、管理和治疗。该平台位于基因组研究和临床社区之间。DECIPHER 的目的是确保在其解释界面中快速提供最新的数据，以改善临床护理。新整合的心脏病例对照数据提供了基因-疾病关联的证据，并为变异解释提供了信息，体现了这一使命。新的研究资源以一种优化的格式呈现，供广泛的支持基因组医学服务的专业人员使用。DECIPHER 中的接口整合和上下文化了变异和表型数据，有助于为罕见病患者确定稳健的临床分子诊断，该诊断结合了变异分类和临床适配。DECIPHER 支持发现研究，将罕见病社区中的个体联系起来，进行基于假设的研究。
