Improving genotype call accuracy

描述（由申请人提供）：新的测序技术和越来越密集的SNP阵列正在产生大量的遗传数据。样本量正在增加，基因型变异的范围正在扩大，包括结构和多等位基因变异。这项研究将开发改进的基因型调用方法，这些方法是为这些数据而设计的，并以新颖而强大的方式使用来自大样本量和相关个体的信息。结果将提高基因型数据的准确性，这将有利于所有关于健康和疾病遗传决定因素的研究。 公共卫生相关性：个体携带的遗传变异可以增加或减少个体患可遗传疾病的风险，如心血管疾病和糖尿病。这项研究将开发新的方法和软件，提高我们识别增加或减少疾病风险的遗传变异的能力。这项研究将有助于预防，诊断和治疗遗传性疾病在美国和世界各地。

DESCRIPTION (provided by applicant): New sequencing technologies and increasingly dense SNP arrays are generating a flood of genetic data. Sample sizes are increasing and the spectrum of genotyped variation is broadening to include structural and multi-allelic variants. This research will develop improved genotype calling methods that are designed for these data and that use information from large sample sizes and from related individuals in novel and powerful ways. The result will be improved genotype data accuracy which will benefit all research on the genetic determinants of health and disease. PUBLIC HEALTH RELEVANCE: The genetic variants carried by an individual can increase or decrease the individual's risk of heritable diseases such as cardiovascular disease and diabetes. This research will develop new methods and software that improve our ability to identify genetic variants that increase or decrease risk of disease. This research will contribute to the prevention, diagnosis, and treatment of heritable diseases in the United States and throughout the world.