Genome sequencing 为了满足临床准确性、精确性和一致性的要求,跨越DNA样本提取和测序,All of Us基因组中心和生物银行协调了实验室协议,建立了标准的质量控制方法和指标,并使用先前已表征的临床样本和商业可用的参考标准进行了一系列验证实验。 简要地说,使用Illumina Kapa HyperPrep试剂盒构建了无PCR条形码的全基因组测...
All of Us项目是NIH近年来资助规模最大的项目之一,被喻为美国迄今为止,从人口代表性样本中整合健康和行为数据以及基因测序数据的“最雄心勃勃的尝试”。 All of Us项目总预算15亿美元,鼓励全美上百万民众积极参与并贡献他们的健康信息数据,从而形成包括全基因组在内的人类健康基准数据,帮助科学家研究和探索如何防治疾...
关于“All of Us” “All of Us”研究项目于2018年正式启动,开放全国注册,预计纳入100万人的队列研究,参与者包括各种族、不同年龄和性别的人群,也包括病人和健康人。 项目方认为,以往的研究项目对美国多种族的覆盖是不够充分的,因此该项目将纳入约80%未被代表的人群,50%的参与者被认为是种族/人种少数族群。 该...
同时,All of Us队列资助美国贝勒医学院、麻省理工学院-哈佛大学博德研究所、华盛顿大学西北基因组学中心以及阿尔法生物技术研究所建立4个基因组研究中心(Genome Centers),对生物样本进行基因组测序和分析。 2.2 长期稳定的经费保障机制 充足的经费来源是大型队列得以...
Genome-wide association studiesGenomicsSequencingComprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for the field of human genetics1,2,3,4. The All of Us Research Program is a longitudinal cohort study aiming to enrol a diverse group of ...
This cross-sectional study uses data from the All of Us Research Program to assess whether the prevalence of 12 common health conditions differs between
Genome sequencing To satisfy the requirements for clinical accuracy, precision and consistency across DNA sample extraction and sequencing, the All of Us Genome Centers and Biobank harmonized laboratory protocols, established standard QC methodologies and metrics, and conducted a series of validation experim...
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See theWhole Genome HG002 Case Study. Running locally and on other clouds These workflows may be used locally, with Docker, or on Terra. They can also be modified to run on other clouds or HPC systems with minimal effort. Running locally with or without Docker can be done via Cromwell us...
With recent advances in genome sequencing and analysis, a picture of ASD's genetic landscape has started to take shape. Research has shown that most ASD risk is polygenic (stemming from the combined small effects of thousands of genetic differences, distributed across the genome). Some cases are...