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第十五届QTLMAS公共数据集II的分析比较:QTL分析

Comparison of the analyses of the XVth QTLMAS common dataset II: QTL analysis.

作者信息

Demeure Olivier, Filangi Olivier, Elsen Jean-Michel, Le Roy Pascale

机构信息

INRA, UMR1348 PEGASE, Domaine de la Prise, 35590 Saint-Gilles, France.

出版信息

BMC Proc. 2012 May 21;6 Suppl 2(Suppl 2):S2. doi: 10.1186/1753-6561-6-S2-S2.

Abstract

BACKGROUND

The QTLMAS XVth dataset consisted of the pedigrees, marker genotypes and quantitative trait performances of 2,000 phenotyped animals with a half-sib family structure. The trait was regulated by 8 QTL which display additive, imprinting or epistatic effects. This paper aims at comparing the QTL mapping results obtained by six participants of the workshop.

METHODS

Different regression, GBLUP, LASSO and Bayesian methods were applied for QTL detection. The results of these methods are compared based on the number of correctly mapped QTL, the number of false positives, the accuracy of the QTL location and the estimation of the QTL effect.

RESULTS

All the simulated QTL, except the interacting QTL on Chr5, were identified by the participants. Depending on the method, 3 to 7 out of the 8 QTL were identified. The distance to the real location and the accuracy of the QTL effect varied to a large extent depending on the methods and complexity of the simulated QTL.

CONCLUSIONS

While all methods were fairly efficient in detecting QTL with additive effects, it was clear that for non-additive situations, such as parent-of-origin effects or interactions, the BayesC method gave the best results by detecting 7 out of the 8 simulated QTL, with only two false positives and a good precision (less than 1 cM away on average). Indeed, if LASSO could detect QTL even in complex situations, it was associated with too many false positive results to allow for efficient GWAS. GENMIX, a method based on the phylogenies of local haplotypes, also appeared as a promising approach, which however showed a few more false positives when compared with the BayesC method.

摘要

背景

QTLMAS第十五数据集包含了具有半同胞家系结构的2000头表型动物的系谱、标记基因型和数量性状表现。该性状由8个表现出加性、印记或上位性效应的QTL调控。本文旨在比较该研讨会6名参与者获得的QTL定位结果。

方法

应用不同的回归、GBLUP、LASSO和贝叶斯方法进行QTL检测。基于正确定位的QTL数量、假阳性数量、QTL定位的准确性以及QTL效应估计对这些方法的结果进行比较。

结果

除了5号染色体上的互作QTL外,所有模拟的QTL均被参与者识别。根据方法不同,8个QTL中识别出了3至7个。根据方法以及模拟QTL的复杂性,与真实位置的距离和QTL效应的准确性差异很大。

结论

虽然所有方法在检测具有加性效应的QTL方面都相当有效,但很明显,对于非加性情况,如亲本来源效应或互作,BayesC方法通过检测8个模拟QTL中的7个给出了最佳结果,只有两个假阳性且精度良好(平均距离小于1厘摩)。实际上,虽然LASSO即使在复杂情况下也能检测QTL,但它与过多的假阳性结果相关,无法进行有效的全基因组关联研究。GENMIX是一种基于局部单倍型系统发育的方法,也似乎是一种有前途的方法,然而与BayesC方法相比,它显示出更多的假阳性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8a3/3363156/9bbf172b10c6/1753-6561-6-S2-S2-1.jpg

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