DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) 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.

中文翻译：

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DECIPHER：通过基因组和临床数据的动态整合改善遗传诊断

DECIPHER（使用 Ensembl 资源的人类基因组变异和表型数据库）共享来自遗传性疾病患者的候选诊断变异和表型数据，以促进研究并改进罕见疾病的诊断、管理和治疗。该平台位于基因组研究和临床社区之间的边界。 DECIPHER 旨在确保在其解释界面中快速提供最新数据，以改善临床护理。新整合的心脏病病例对照数据提供了基因与疾病关联的证据并为变异解释提供了信息，这证明了这一使命。新的研究资源以优化的格式呈现，供支持基因组医学的广泛专业人士使用。 DECIPHER 内的界面将变异和表型数据整合并关联起来，有助于为罕见疾病患者确定可靠的临床分子诊断，该诊断结合了变异分类和临床拟合。 DECIPHER 支持发现研究，将罕见疾病社区内的个体联系起来，以追求假设驱动的研究。