Ensuring Trust in Genomics Research
Ensuring Trust in Genomics Research
复制标题
DOI：
10.1109/tps-isa58951.2023.00011
复制
发表时间：
2023-11
期刊：
影响因子：
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通讯作者：
Erman Ayday;Jaideep Vaidya;Xiaoqian Jiang;Amalio Telenti
中科院分区：
文献类型：
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作者：
Erman Ayday;Jaideep Vaidya;Xiaoqian Jiang;Amalio Telenti
复制性、透明度、代表性和隐私性支撑了对基因组学研究的信任，特别是全基因组关联研究（GWAS）。解决隐私保护、质量控制和GWAS可验证性的技术可以缓解对这些问题的担忧。然而，许多现有的技术解决方案是孤立开发的，可能解决GWAS的可再现性、透明度、代表性和隐私性的一个方面，同时在不知不觉中影响其他方面。因此，目前拼凑的技术工具只能部分地以重叠的方式解决GWAS的问题，有时甚至造成更多的问题。本文讨论了一个领域的进展，创造技术解决方案，增加人口遗传分析的接受和安全。报告指出了在技术执行方面落后或研究不足的领域。我们提出的情况下，不同的GWAS设置，技术工具和新的研究方向的充分理解可以从整体上解决GWAS的接受的要求。
Reproducibility, transparency, representation, and privacy underpin the trust on genomics research in general and genome-wide association studies (GWAS) in particular. Concerns about these issues can be mitigated by technologies that address privacy protection, quality control, and verifiability of GWAS. However, many of the existing technological solutions have been developed in isolation and may address one aspect of reproducibility, transparency, representation, and privacy of GWAS while unknowingly impacting other aspects. As a consequence, the current patchwork of technological tools only partially and in an overlapping manner address issues with GWAS, sometimes even creating more problems. This paper addresses the progress in a field that creates technological solutions that augment the acceptance and security of population genetic analyses. The text identifies areas that are falling behind in technical implementation or where there is insufficient research. We make the case that a full understanding of the different GWAS settings, technological tools and new research directions can holistically address the requirements for the acceptance of GWAS.