High Performance Computing System for Human Genomics

描述（由申请人提供）：高性能计算是现代人类统计基因组学的核心。在西南生物医学研究基金会（SFBR）的遗传学系，我们专注于人类复杂疾病的遗传解剖，这些疾病通常涉及许多基因和环境因素的作用。对于复杂疾病的特定遗传项目，我们通常会生成大量基于序列的遗传、转录组和疾病相关表型信息。由于基于家庭的基因定位和鉴定研究比那些在无血缘关系的个体中进行的研究要强大得多，我们也关注涉及非常大的扩展谱系的研究。统计遗传学理论可以用来表明，当罕见的遗传变异可能在疾病风险中发挥作用时，这种设计是最佳的。全基因组关联研究只能发现与常见疾病相关的遗传变异，其累积结果现在强烈表明，罕见变异在人类复杂疾病中具有重要意义。然而，由于基于家庭的数据是非独立的，因此必须同时进行分析，因此使用扩展谱系信息会产生很高的计算代价。这些问题都导致了对更强大的计算技术的需求。在此申请中，我们请求资金购买一个大型的基于opteron的高性能并行计算集群（并购5000核心计算集群），以专门帮助正在进行的研究项目，NIH资助超过8100万美元。

DESCRIPTION (provided by applicant): High performance computation lies at the heart of modern human statistical genomics. In the Department of Genetics at the Southwest Foundation for Biomedical Research (SFBR), we specialize in the genetic dissection of human complex diseases that typically involve the actions of many genes and environmental factors. For a given genetic project on complex diseases, we typically generate vast amounts of sequence- based genetic, transcriptomic, and disease-related phenotypic information. Because family-based gene localization and identification studies are substantially more powerful than those undertaken in unrelated individuals, we also focus on studies involving very large extended pedigrees. Statistical genetic theory can be invoked to show that such a design is optimal when rare genetic variants are likely to play a role in disease risk. Accumulating results from genome-wide association studies, which are capable of only finding common disease-related genetic variants, now strongly suggest that rare variants are of substantial importance in human complex disease. However, the utilization of extended pedigree information incurs a strong computational price, since family-based data are non-independent and therefore must be analyzed simultaneously. These issues all lead to the need for ever more powerful computational technologies. In this application, we request funds to purchase a large Opteron-based high performance parallel computing cluster (an M&A 5000 Core Computational Cluster) to specifically aid ongoing research projects with more than $81 million dollars of NIH funding. PUBLIC HEALTH RELEVANCE: The Department of Genetics at the Southwest Foundation for Biomedical Research focuses on understanding the genetic factors involved in human common complex diseases, including cardiovascular disease, diabetes, obesity, aging, pre-eclampsia, psychiatric disorders and infectious diseases. Investigators employ state-of-the science statistical/computational methods to process vast amounts of sequence-based genetic, transcriptomic, and disease-related phenotypic data to localize and identify novel genes influencing disease risk. Acquisition of a high performance parallel computing cluster (the M&A 5000 Core Computational Cluster) will speed the pace of gene discovery in such disorders. The proposed equipment will also significantly enhance both job creation and job retention at the Southwest Foundation for Biomedical Research and M&A Technology, Inc.