全基因组关联研究质量控制的多标准决策方法。

Alberto Malovini, Carla Rognoni, Annibale Puca, Riccardo Bellazzi
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引用次数: 0

摘要

全基因组关联研究(GWAS)基因分型阶段的实验错误可能导致假阳性结果和虚假关联。适当的质量控制阶段可以最大限度地减少这种错误的影响。可以使用几个过滤标准来执行质量控制。目前,还没有提出正式的方法来同时考虑这些标准和实验者的偏好。在本文中,我们提出了两种策略来设定合适的基因分型率阈值,用于GWAS质量控制。这两种方法都是基于多准则决策理论。我们将我们的方法应用于一个真实的数据集,该数据集由734名动脉高血压(AH)患者和486名没有AH病史的老年人组成。所提出的策略似乎以一种合理的方式处理了GWAS的质量控制,因为它们导致实验者的选择合理化和明确化,从而提供了更多可重复的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Multi-criteria decision making approaches for quality control of genome-wide association studies.

Multi-criteria decision making approaches for quality control of genome-wide association studies.

Multi-criteria decision making approaches for quality control of genome-wide association studies.

Experimental errors in the genotyping phases of a Genome-Wide Association Study (GWAS) can lead to false positive findings and to spurious associations. An appropriate quality control phase could minimize the effects of this kind of errors. Several filtering criteria can be used to perform quality control. Currently, no formal methods have been proposed for taking into account at the same time these criteria and the experimenter's preferences. In this paper we propose two strategies for setting appropriate genotyping rate thresholds for GWAS quality control. These two approaches are based on the Multi-Criteria Decision Making theory. We have applied our method on a real dataset composed by 734 individuals affected by Arterial Hypertension (AH) and 486 nonagenarians without history of AH. The proposed strategies appear to deal with GWAS quality control in a sound way, as they lead to rationalize and make explicit the experimenter's choices thus providing more reproducible results.

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