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Use of SNP genotypes to identify carriers of harmful recessive mutations in cattle populations

机译:利用SNP基因型鉴定牛群中有害隐性突变的携带者

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摘要

BackgroundSNP (single nucleotide polymorphisms) genotype data are increasingly available in cattle populations and, among other things, can be used to predict carriers of specific mutations. It is therefore convenient to have a practical statistical method for the accurate classification of individuals into carriers and non-carriers. In this paper, we compared – through cross-validation– five classification models (Lasso-penalized logistic regression –Lasso, Support Vector Machines with either linear or radial kernel –SVML and SVMR, k-nearest neighbors –KNN, and multi-allelic gene prediction –MAG), for the identification of carriers of the TUBD1 recessive mutation on BTA19 (Bos taurus autosome 19), known to be associated with high calf mortality. A population of 3116 Fleckvieh and 392 Brown Swiss animals genotyped with the 54K SNP-chip was available for the analysis.
机译:背景SNP(单核苷酸多态性)基因型数据在牛群中越来越多,除其他外,可用于预测特定突变的携带者。因此,方便实用的统计方法可将个体准确分类为携带者和非携带者。在本文中,我们通过交叉验证比较了五个分类模型(套索惩罚线性回归套索–套索,具有线性或径向核的支持向量机–SVML和SVMR,k近邻– KNN和多等位基因预测–MAG),用于鉴定BTA19(金牛座常染色体19)上TUBD1隐性突变的携带者,已知与小牛死亡率高有关。使用54K SNP芯片进行基因分型的3116弗莱维(Fleckvieh)和392布朗瑞士(Swiss Swiss)种群可供分析。

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