Methodology development and analysis strategies for family-based association studies on the basis of high-throughput sequence data and an application to three Alzheimers'disease data sets

与其他工业化国家一样，德国的人口发展导致神经退行性疾病的公共卫生费用不断增加。因此，在过去的几十年里，这一领域的研究和药物开发得到了加强。研究表明，许多神经退行性疾病，特别是阿尔茨海默病，都有很强的遗传背景。单核苷酸多态性芯片技术的技术进步使当今相当便宜的整个人类基因组测序成为可能。这些所谓的全基因组测序数据允许鉴定基因组中可能的致病基因座，这些基因型数据无法根据基因型数据进行鉴定，基因型数据仅对基因组中一定份额的遗传基因座进行测序。与这些发展相反，全基因组序列数据的方法学研究相当稀少。该研究项目的目的是与我们的韩国合作伙伴合作，为基于家庭的全基因组测序数据开发新的方法分析策略。此外，计划为这些新开发的方法和分析策略提供软件实现，并将其应用于阿尔茨海默病的三个全基因组测序数据集

The demographic development in Germany as in other industrialized nations has led to a constant increase in the public health expenses for neurodegenerative diseases. As a consequence, research and drug development has intensified in this field over the last decades. Studies have shown that many neurodegenerative diseases and in particular Alzheimer's disease show a strong genetic background.Technological advances in SNP-Chip technologies enable nowadays the rather inexpensive sequencing of the whole human genome. These so called whole-genome sequencing data allow the identification of possible disease causative loci in the genome that could not be identified on the basis of genotype-data, which sequence only a certain share of genetic loci in the genome. Contrary to these developments is the methodological research for whole-genome sequence data rather sparse. The aim of this research project is the development of new methodology analyses strategies for family-based whole-genome sequencing data in collaboration with our Korean partners. Further it is planned to provide a software implementation for these newly developed methodologies and analyses strategies and to apply them to three whole-genome sequencing data sets for Alzheimer's disease