DECIPHER

DECIPHER是一个临床基因组数据库。它由英国Wellcome Sanger研究所于2004年发起建立，主要用于共享和比较表型与基因型数据，以支持罕见遗传病的诊断与研究。该数据库收录了数万名患者的数据，并促进了数千篇科学论文的发表。DECIPHER is a clinical genomic database. It was established in 2004 by the Wellcome Sanger Institute in the United Kingdom, with the core goal of sharing and comparing phenotypic and genotypic data to support the diagnosis and research of rare genetic diseases. The database houses data from tens of thousands of patients and has facilitated the publication of thousands of scientific papers.

搜集汇总

背景与挑战

背景概述

DECIPHER是一个由英国Wellcome Sanger研究所发起的临床基因组数据库，专注于罕见遗传病研究，通过共享表型和基因型数据支持诊断。该数据库包含超过5万名患者的公开数据，自2004年以来已促进数千篇科学论文的发表。