Improving genotype call accuracy

描述(申请人提供)：新的测序技术和日益密集的SNP阵列正在产生大量的基因数据。样本量在增加，基因分型变异的范围也在扩大，包括结构和多等位基因变异。这项研究将开发针对这些数据设计的改进的基因型呼唤方法，并以新颖而有力的方式使用来自大样本和相关个人的信息。其结果将是提高基因数据的准确性，这将有利于对健康和疾病的遗传决定因素的所有研究。 与公共卫生相关：个人携带的基因变异可以增加或降低个人患心血管疾病和糖尿病等遗传性疾病的风险。这项研究将开发新的方法和软件，以提高我们识别增加或降低疾病风险的基因变异的能力。这项研究将有助于美国和全世界遗传性疾病的预防、诊断和治疗。

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.