Setting the Standard for Genomics and Health-Related Data Sharing: The Global Alliance for Genomics and Health

制定基因组学和健康相关数据共享标准：全球基因组学与健康联盟

• 批准号: MC_PC_19024
• 负责人: Ewan Birney
• 金额: $ 127.42万
• 依托单位: European Bioinformatics Institute
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2020
• 资助国家: 英国
• 起止时间: 2020 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=MC_PC_19024
• 关键词: Setting; Standard; Genomics; Health; Related

Ethical, efficient sharing of federated genomic and health related data will transformdisease diagnosis and treatment, reveal new patterns in human biology, allow researchers to expand studies of cancer and common disease associations to less common and more detailed analyses, strengthen genomic variant interpretation in rare diseases, and enable more informed clinical decisions. However, lack of interoperability—both technical and regulatory—has resulted in data that is siloed by institution, country, and disease area, locking away their potential to contribute to research and medicine. The Global Alliance for Genomics and Health convenes the research and healthcare communities to agree on common methods for collecting, storing, transferring, accessing, and analyzing data in order to overcome these barriers, enable broad data sharing that transcends the boundaries of any single institution or country, and fulfill the human right of everyone to benefit from the advances of genomic research, as mandated by the Universal Declaration of Human Rights (Assembly 1948).

联合基因组和健康相关数据的道德、有效共享将改变疾病诊断和治疗，揭示人类生物学的新模式，使研究人员能够将癌症和常见疾病关联的研究扩展到不太常见和更详细的分析，加强罕见疾病的基因组变异解释，并实现更明智的临床决策。然而，缺乏互操作性-技术和监管-导致数据被机构，国家和疾病领域孤立，锁定了它们对研究和医学做出贡献的潜力。全球基因组学与健康联盟召集研究和医疗保健界就收集、存储、传输、访问和分析数据的通用方法达成一致，以克服这些障碍，实现超越任何单一机构或国家边界的广泛数据共享，并实现每个人从基因组研究进步中受益的人权。根据《世界人权宣言》（1948年）的规定。

项目成果

Phenopacket-tools: Building and validating GA4GH Phenopackets.

Phenopacket-tools：建筑和验​​证GA4GH现场。

• DOI: 10.1371/journal.pone.0285433
• 发表时间: 2023
• 期刊: PLOS ONE
• 影响因子: 3.7
• 作者: Danis, Daniel;Jacobsen, Julius O. B.;Wagner, Alex H.;Groza, Tudor;Beckwith, Martha A.;Rekerle, Lauren;Carmody, Leigh C.;Reese, Justin;Hegde, Harshad;Ladewig, Markus S.;Seitz, Berthold;Munoz-Torres, Monica;Harris, Nomi L.;Rambla, Jordi;Baudis, Michael;Mungall, Christopher J.;Haendel, Melissa A.;Robinson, Peter N.
• 通讯作者: Robinson, Peter N.

Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.

• DOI: 10.1016/j.xgen.2022.100246
• 发表时间: 2023-02-08
• 期刊: CELL GENOMICS
• 作者: Corvo, Alberto;Matalonga, Leslie;Spalding, Dylan;Senf, Alexander;Laurie, Steven;Pico-Amador, Daniel;Fernandez-Callejo, Marcos;Paramonov, Ida;Romero, Anna Foix;Garcia-Rios, Emilio;Ciges, Jorge Izquierdo;Mohan, Anand;Thomas, Coline;Valencia, Andres Felipe Silva;Halmagyi, Csaba;Freeberg, Mallory Ann;Topf, Ana;Horvath, Rita;Saunders, Gary;Gut, Ivo;Keane, Thomas;Piscia, Davide;Beltran, Sergi
• 通讯作者: Beltran, Sergi

CRAM 3.1: advances in the CRAM file format.

• DOI: 10.1093/bioinformatics/btac010
• 发表时间: 2022-03-04
• 期刊: Bioinformatics (Oxford, England)
• 作者: Bonfield JK

P648: A generalized model to describe sequence feature annotation

P648：描述序列特征注释的广义模型

• DOI: 10.1016/j.gimo.2023.100713
• 发表时间: 2023
• 期刊: Genetics in Medicine Open
• 作者: Christensen E

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.

日本队列中 BRCA1 和 BRCA2 变异的联合分析。

• DOI: 10.1016/j.xgen.2022.100109
• 发表时间: 2022
• 期刊: Cell genomics
• 作者: Casaletto J