ASCERTAINMENT CORRECTION FOR EXTENDED PEDIGREES

描述(申请人提供)：这一人类基因分析资源将有助于绘制、鉴定和表征导致人类复杂疾病的基因。该资源将向研究此类疾病的家族性质的研究人员提供人类基因分析方面的服务和专业知识。将为此目的开发更多的统计分析方法和研究设计，并编制文件齐全、用户友好的计算机程序，这些程序可以很容易地适应人类遗传学家和遗传流行病学家的需要。理论发展将包括对所开发的所有程序的有效性、有效性和稳健性的研究。关联、分离和连锁分析方法将允许，例如，非正态、多因素引起的家族相关性、可测量和不可测量的环境影响、孟德尔和非孟德尔遗传效应，以及非随机抽样。将提供使用这些方法的咨询服务，并将这些方法应用于几个广泛领域的合作研究，包括癌症、肺/心血管疾病、眼科疾病、神经疾病、自身免疫性疾病、肾脏疾病和牙齿/颅面表型。人类基因分析员将接受博士后和博士后阶段的培训，并在国内和国际上开设短期课程，以培训人们进行遗传流行病学的统计分析，并使用将开发的计算机程序。关于资源及其活动的信息将在国家和国际会议上广泛传播，并在万维网上建立主页。

DESCRIPTION (provided by applicant): This Human Genetic Analysis Resource will facilitate the mapping, identification and characterization of genes that cause complex diseases in man. The Resource will provide services and expertise in human genetic analysis to research workers investigating the familial nature of such diseases. Further statistical methods of analysis and study designs will be developed for this purpose, and well-documented, user-friendly computer programs prepared that can be easily tailored to the needs of human geneticists and genetic epidemiologists. Theoretical developments will include studies of validity, power and robustness of all procedures developed. Methods of association, segregation and linkage analysis will allow for, e.g., nonnormality, multifactorially caused familial correlations, measured and non-measured environmental effects, both Mendelian and non-Mendelian genetic effects, and non-random sampling. Consulting services in the use of these methods will be provided, and the methods will be applied in collaborative research to several broad areas, including cancer, pulmonary/cardiovascular diseases, ophthalmologic diseases, neurological diseases, autoimmune diseases, renal diseases, and dental/craniofacial phenotypes. Human genetic analysts will be trained at the pre- and post-doctoral levels, and short courses given, both nationally and internationally, to train people in statistical analysis for genetic epidemiology and in the use of the computer programs that will be developed. Information about the Resource and its activities will be broadly disseminated at national and international meetings and by maintaining a home page on the World Wide Web.