亨廷顿舞蹈病研究的软件支持
Software support for Huntingtons disease research.
作者信息
Conneally P M, Gersting J M, Gray J M, Beidleman K, Wexler N S, Smith C L
机构信息
Indiana University.
出版信息
Proc Annu Symp Comput Appl Med Care. 1991:419-23.
Huntingtons disease (HD) is a hereditary disorder involving the central nervous system. Its effects are devastating, to the affected person as well as his family. The Department of Medical and Molecular Genetics at Indiana University (IU) plays an integral part in Huntingtons research by providing computerized repositories of HD family information for researchers and families. The National Huntingtons Disease Research Roster, founded in 1979 at IU, and the Huntingtons Disease in Venezuela Project database contain information that has proven to be invaluable in the worldwide field of HD research. This paper addresses the types of information stored in each database, the pedigree database program (MEGADATS) used to manage the data, and significant findings that have resulted from access to the data.
亨廷顿舞蹈症（HD）是一种累及中枢神经系统的遗传性疾病。它对患者及其家庭都会造成毁灭性影响。印第安纳大学（IU）的医学与分子遗传学系通过为研究人员和家庭提供亨廷顿舞蹈症家族信息的计算机化存储库，在亨廷顿舞蹈症研究中发挥着不可或缺的作用。1979年在印第安纳大学建立的全国亨廷顿舞蹈症研究名录以及委内瑞拉亨廷顿舞蹈症项目数据库所包含的信息，已被证明在全球亨廷顿舞蹈症研究领域具有极高价值。本文阐述了每个数据库中存储的信息类型、用于管理数据的系谱数据库程序（MEGADATS）以及因获取这些数据而产生的重大研究成果。
Zotero 插件