The Baylor-Hopkins Clinical Genomics Center for All of Us

贝勒-霍普金斯大学临床基因组学中心

• 批准号: 10003441
• 负责人: ERIC A. BOERWINKLE
• 金额: $ 1385.5万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-25 至 2023-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10003441
• 关键词: Awareness; Biological Assay; CLIA certified; Clinical; Collaborations; Communication; Communities; Cost efficiency; Data; Environment; Genetic; Genome; Genomics; Genotype; Hereditary Disease; Individual; Medicine; Metadata; Methods; Participant; Pathogenicity; Phase; Population; Process; Protocols documentation; Public Health Schools; Reporting; Research; Sampling; Secure; Texas; United States National Institutes of Health; Universities; Validation; Variant; Work; cloud based; college; cost; experience; frontier; genomic data; human genome sequencing; innovation; member; programs; software development; tool; whole genome

The Baylor-Hopkins Clinical Genomics Center (BHCGC), incorporating the Baylor College of Medicine (BCM) Human Genome Sequencing Center (HGSC) and the Johns Hopkins University Center for Inherited Disease Research (CIDR) will perform at least 900,000 whole genome array genotype assays and 700,000 whole genome sequences with a minimum of 35-fold coverage, over five years, for the National Institutes of Health’s All of Us Program (AoU). The work will all be carried out in CAP/CLIA certified environments and will favor Illumina platforms, with a projected average cost of less than $31 per genotype and $647 per WGS, respectively. Sequencing and analyses will be performed with NIH compliant pipelines and population-aware methods applied for phasing and ancestry determination. Automated methods will identify and rank putative pathogenic or likely pathogenic variants for every participant, and make available the results in both ‘pre-reports’ and in a searchable environment, assisting selection of a subset of individuals for Clinical Validation. Signed, Clinical Reports will be generated for up to six thousand participants per year, leveraging BCM’s deep experience in genetic interpretation. The partnership will maintain a secure cloud Baylor-Hopkins AoU Portal (BHAoU Portal) to manage sample tracking and to distribute all data, with symmetric access to BHCGC and AoU DCR and GRC members. Data flow and population level analyses will be overseen by partners at the University of Texas School of Public Health (UTSPH), DNAnexus will facilitate the cloud-based data communication and a collaboration with Microsoft Research will innovate in optimized computing. A new ‘Frontiers of Interpretation’ group will work locally, and with Microsoft, for application of AI methods for variant interpretation. Approximately 300 genomes will be ‘upgraded’ in quality with a battery of with other sequencing methods, in the first year, to determine the impact on Clinical Reporting and guide program adjustments. Pursuit of innovation for enhanced analytical value or cost efficiencies will be a priority. Direct deliverables to the AoU DRC will include sample metadata, raw and processed genomic data, variant interpretations, and preliminary and signed Clinical Reports. In addition, all protocols, tools, and software developed for the All of Us program will be made available to the program and to the broader scientific community.

Baylor-Hopkins临床基因组学中心（BHCGC），贝勒医学院（BCM） 人类基因组测序中心（HGSC）和约翰·霍普金斯大学遗传疾病中心 研究（CIDR）将至少执行900,000个全基因组阵列基因型测定法和700,000个整体 国立卫生研究院的基因组序列至少覆盖了35倍的覆盖范围 我们所有的计划（aou）。这项工作将全部在CAP/CLIA认证的环境中进行，并将偏爱 Illumina平台，预计平均每个基因型的平均成本分别低于31美元和每WGS的647美元。 将使用符合NIH的管道和种群感知方法进行测序和分析 用于定义和祖先的决定。自动化方法将识别并排名推定的病原或可能 每个参与者的致病性变体，并在“预报告”和可搜索的中提供结果 环境，协助选择一个个体以进行临床验证。签名，临床报告将是 每年最多可容纳6000名参与者，利用BCM的深度经验 解释。该合作伙伴关系将维持安全的云贝勒 - 霍普金斯aou门户（Bhaou Portal） 管理样本跟踪并分发所有数据，并使用对BHCGC和AOU DCR和GRC的对称访问 成员。得克萨斯大学学校的合作伙伴将监督数据流量和人口水平分析 Dnanexus的公共卫生（UTSPH）将促进基于云的数据通信和与 微软研究将在优化计算中进行创新。一个新的“解释前沿”小组将有效 在本地和Microsoft中，用于应用AI方法进行变异解释。大约300个基因组 第一年，将通过其他测序方法与其他测序方法“升级”质量 对临床报告和指导计划调整的影响。追求创新以提高分析价值 或成本效率将是优先事项。直接到达DRC的可交付成果包括样品元数据，RAW和 处理的基因组数据，变体解释以及初步和签名的临床报告。另外，所有人 为我们所有计划开发的协议，工具和软件将提供给程序和 更广泛的科学界。