DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Julia Foreman, Daniel Perrett, Erica Mazaika, Sarah E Hunt, James S Ware, Helen V Firth
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引用次数: 0

Abstract

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.

Abstract Image

Abstract Image

Abstract Image

DECIPHER:通过动态整合基因组和临床数据改进基因诊断。
DECIPHER(使用 Ensembl 资源的人类基因组变异和表型数据库)共享遗传疾病患者的候选诊断变异和表型数据,以促进研究,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 的目标是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为基因与疾病的关联提供了证据,并为变异体的解读提供了信息,这些数据都体现了这一使命。新的研究资源以最优化的格式呈现,供支持基因组医学的广大专业人员使用。DECIPHER 中的界面整合了变异和表型数据并将其上下文化,有助于为罕见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适应性。DECIPHER 支持发现研究,将罕见病社区内的个人联系起来,开展假设驱动的研究。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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