新湖畔网 （随信APP) | 探索人类基因组获得新的资金

科学正在推进我们对人体的了解。照片由蒂姆·桑德尔（在伦敦威康中心拍摄）提供。

密歇根大学准备增加其Trans-Omics for Precision Medicine（TOPMed）数据中心中存储的遗传信息的数量和类型。这些信息被全球研究人员和医疗保健提供者使用，他们希望通过基因组来治疗疾病。

这一扩展得益于美国国家心脏，肺脏和血液研究所提供的3000万美元资助。密歇根大学的TOPMed信息学研究中心将增强大量遗传和基因组健康数据的可用性，以及存储，分类和使其对研究人员和医疗保健提供者进行无尽可能的查询。

“这一奖项证明了我们研究人员在利用基因数据进行开创性科学发现和精准健康方面的显著影响，”公共卫生学院院长F. DuBois Bowman解释道。“这笔资金将使我们的团队能够加速研究，从而改善全球人们的健康和生活。”

20万个完全测序的人类基因组

TOPMed的数据包括20万个完全测序的人类基因组，2200万张CT扫描图像以及来自10000多名患者的其他健康信息，这些患者的DNA，RNA和其他生物细节可用于研究和治疗疾病。

该资金特别用于支持TOPMed背后的基因数据的信息学和生物统计工作，该项目成立已有10年。该中心是全球最大的基因数据收集之一。TOPMed的数据重点放在心脏，肺脏，血液和睡眠障碍等疾病上。

这种方法允许捕获不同生物水平之间的复杂相互作用，提供更全面的健康和疾病视角。

寻找存在于人类基因组中的遗传模式

目标是生成足够统计学力量的大量基因组数据以进行科学发现。目标是将TOPMed最初难以识别的大量进入患者信息转变为有目的，受保护的数据集，以供研究人员和医疗保健提供者在人类基因组中寻找相似性，异常和遗传模式中寻找答案。这是为了让研究人员，医生和其他人以某种方式来了解疾病的潜在原因。

管理和保护日益增长的完全测序的基因组和其他遗传信息是一项巨大的任务。生物统计学家设计了可以找到数据背后关联和意义的系统，并使其可访问。

研究人员和医生可以请求数据来进一步了解各种情况：为什么免疫疗法对某些癌症患者有效而对另一些人无效？癌症肿瘤中的基因物质是什么？哪些基因突变触发疾病？

患者数据是匿名和受保护的。数据由研究计划提供，如All for Us，The Million Veterans Program和NIH基因型和表型数据库。

Science is advancing our understanding of the human body. Image by Tim Sandle (taken at the Wellcome Centre, London).

The University of Michigan is set to increase the amount and type of genetic information stored in its Trans-Omics for Precision Medicine (TOPMed) data center. This information is used by researchers and healthcare providers around the world looking to genomes to treat disease.

The expansion has been made possible thanks to a $30 million award from the U.S. National Heart, Lung, and Blood Institute. The TOPMed Informatics Research Center at U-M will enhance the usability of the vast amounts of genetic and genomic health data, and the demands of storing it, sorting it and making it available for endless possible queries for researchers and healthcare providers.

“This award is a testament to our researchers’ significant impact in harnessing the power of genomic data for groundbreaking scientific discovery and precision health,” F. DuBois Bowman, dean of the School of Public Health explains. “This funding will enable our dedicated team to accelerate research that will improve the health and lives of people around the world.”

200,000 fully-sequenced human genomes

TOPMed’s data includes 200,000 fully-sequenced human genomes, 22 million CT scan images and other health information from 10,000-plus patients whose DNA, RNA and other biological details are made available for researching and treating diseases.

The grant specifically funds the informatics and biostatistics work behind the genomic data that is the backbone of TOPMed, which was formed 10 years ago. The center is among the largest such genetic data collections in the world. TOPMed’s data focuses on diseases of the heart, lungs, blood and sleep disorders.

This approach allows for the capture of a complex interplay between different biological levels, providing a more holistic view of health and disease.

Seeking the genetic patterns that exist in human genomes

The goal is to generate a large volume of genomics data that has sufficient statistical power for scientific discovery. The goal is to transform TOPMed’s oceans of initially indecipherable incoming patient information into purposeful, protected data sets for researchers and healthcare providers searching for answers in the similarities, anomalies and genetic patterns that exist in human genomes. This is so that researchers, physicians and others can try to understand underlying causes of disease in some way.

Managing and protecting the ever-growing number of fully sequenced genomes and other genetic information is a mammoth undertaking. The biostatisticians design the system that finds connections and meaning behind the data and make it accessible.

Researchers and physicians can request data to further their knowledge for any number of situations: Why does immunotherapy work for some cancer patients and not others? What is the genetic material in a cancerous tumor? Which genetic mutations are triggering disease?

The patient data is anonymous and protected. The data is provided by research programs such as All for Us, The Million Veterans Program and the NIH Database of Genotypes and Phenotypes