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遗传训练得分低的标记物可能会在全基因组传递率偏度扫描中产生虚假信号。

Markers with low GenTrain scores can generate spurious signals in genome-wide scans for transmission ratio distortion.

机构信息

Centre for Research in Agricultural Genomics (CRAG), CSIC-IRTA-UAB-UB, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain.

Departament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain.

出版信息

Anim Genet. 2021 Oct;52(5):779-781. doi: 10.1111/age.13107. Epub 2021 Jun 29.

Abstract

Transmission ratio distortion (TRD) is the preferential transmission of one specific allele to offspring at the expense of the other. The existence of TRD is mostly explained by the segregation of genetic variants with deleterious effects on the developmental processes that go from the formation of gametes to fecundation and birth. A few years ago, a statistical methodology was implemented in order to detect TRD signals on a genome-wide scale as a first step toward uncovering the biological basis of TRD and reproductive success in domestic species. In the current work, we have analyzed the impact of SNP calling quality on the detection of TRD signals in a population of Murciano-Granadina goats. Seventeen bucks and their offspring (N = 288) were typed with the Goat SNP50 BeadChip, whereas the genotypes of the dams were lacking. Performance of a genome-wide scan revealed the existence of 36 SNPs showing significant evidence of TRD. When we calculated GenTrain scores for each of the SNPs, we observed that 25 SNPs showed scores below 0.8. The allele frequencies of these SNPs in the offspring were not correlated with the allele frequencies estimated in the dams with statistical methods, providing evidence that flawed SNP calling quality might lead to the detection of spurious TRD signals. We conclude that, when performing TRD scans, the GenTrain scores of markers should be taken into account to discriminate SNPs that are truly under TRD from those yielding spurious signals owing to technical problems.

摘要

传递率偏倚(TRD)是指一种特定等位基因在后代中的优先传递,而牺牲了其他等位基因。TRD 的存在主要归因于遗传变异的分离,这些遗传变异对从配子形成到受精和出生的发育过程有不利影响。几年前,为了在全基因组范围内检测 TRD 信号,实施了一种统计方法,作为揭示 TRD 和家养家畜生殖成功的生物学基础的第一步。在当前的工作中,我们分析了 SNP 调用质量对穆尔西亚-格拉纳迪纳山羊群体中 TRD 信号检测的影响。17 只公山羊及其后代(N=288)使用 Goat SNP50 BeadChip 进行了基因分型,而母羊的基因型则缺失。全基因组扫描的结果显示,有 36 个 SNP 显示出明显的 TRD 证据。当我们计算每个 SNP 的 GenTrain 分数时,我们观察到 25 个 SNP 的分数低于 0.8。这些 SNP 在后代中的等位基因频率与用统计方法估计的母羊中的等位基因频率不相关,这表明 SNP 调用质量差可能导致虚假 TRD 信号的检测。我们得出结论,在进行 TRD 扫描时,应该考虑标记的 GenTrain 分数,以区分真正受到 TRD 影响的 SNP 和由于技术问题而产生虚假信号的 SNP。

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