确保对基因组研究的信任。

Erman Ayday, Jaideep Vaidya, Xiaoqian Jiang, Amalio Telenti
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引用次数: 0

摘要

可重复性、透明度、代表性和隐私是基因组学研究,特别是全基因组关联研究(GWAS)获得信任的基础。针对 GWAS 的隐私保护、质量控制和可验证性的技术可以减轻人们对这些问题的担忧。然而,现有的许多技术解决方案都是孤立开发的,它们可能只解决了 GWAS 的可重复性、透明度、代表性和隐私性的一个方面,却不知不觉地影响了其他方面。因此,目前的技术工具只是以重叠的方式部分解决了 GWAS 的问题,有时甚至会带来更多问题。本文探讨了该领域的进展情况,该领域创造了技术解决方案,提高了群体遗传分析的可接受性和安全性。文中指出了技术实施落后或研究不足的领域。我们认为,充分了解不同的 GWAS 环境、技术工具和新的研究方向,可以从整体上满足接受 GWAS 的要求。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Ensuring Trust in Genomics Research.

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.

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