数据库名称：DECIPHER
数据库简述：Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources
所属国家/地区：United Kingdom
数据库主要信息：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.
建立年份：2023
联系信息：Contact information
University/Institution:
Wellcome Sanger Institute
Address:
Wellcome Sanger Institute, Hinxton, United Kingdom.
City:
Hinxton
Province/State:
Country/Region:
United Kingdom
Contact name (PI/Team):
Helen V Firth
Contact email (PI/Helpdesk):
hvf21@cam.ac.uk
