GenoTriplo:用于三倍体的 SNP 基因型调用方法。

IF 3.8 2区 生物学 Q1 BIOCHEMICAL RESEARCH METHODS
PLoS Computational Biology Pub Date : 2024-09-24 eCollection Date: 2024-09-01 DOI:10.1371/journal.pcbi.1012483
Julien Roche, Mathieu Besson, François Allal, Pierrick Haffray, Pierre Patrice, Marc Vandeputte, Florence Phocas
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引用次数: 0

摘要

三倍体在水产养殖和一些栽培植物中非常有用,因为诱导的不育性有助于提高生长和产品质量,同时也是防止野生种群受到逃逸者污染的屏障。为了将三倍体的遗传信息用于学术或育种目的,需要一种高效、稳健的方法来对三倍体进行基因分型。我们开发了这样一种从 SNP 阵列进行基因型调用的方法,并在名为 GenoTriplo 的 R 软件包中实现了该方法。我们的方法不需要关于聚类位置的先验信息,并且不受荧光信号偏移的影响。该方法的原理是,在开始使用聚类算法时,初始的群组数量要高于根据样本倍性水平预计的数量,然后合并彼此过于接近的群组,将其视为不同的基因型。通过多重阈值质量控制实现 SNP 的精确分类。我们将 GenoTriplo 的性能与 fitPoly 的性能进行了比较,fitPoly 是目前唯一公开发表的三倍体 SNP 基因分型方法,软件免费。我们通过比较两种方法对 1232 条三倍体虹鳟的 38,033 个 SNP 基因分型数据集生成的基因型来评估这两种方法的性能。这两种方法在 89% 的基因型上是一致的,但在 26% 的 SNPs 上,它们在确定的不同基因型数量上表现出差异。对于这些 SNPs,当 fitPoly 的基因分型更好时,GenoTriplo 与 fitPoly 的一致性大于 95%。相反,当 GenoTriplo 的基因分型更好时,fitPoly 与 GenoTriplo 的一致性不到 50%。GenoTriplo 更稳健,基因分型错误更少。它还能有效识别样本集中的低频基因型。最后,我们对基于 GenoTriplo 基因分型的亲子鉴定进行了评估,观察到最佳和次佳配偶间的错配率存在显著差异,这表明我们对结果有很高的信心。通过调整一些输入参数,GenoTriplo 还可用于对二倍体以及倍性水平较高的个体进行基因分型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
GenoTriplo: A SNP genotype calling method for triploids.

Triploidy is very useful in both aquaculture and some cultivated plants as the induced sterility helps to enhance growth and product quality, as well as acting as a barrier against the contamination of wild populations by escapees. To use genetic information from triploids for academic or breeding purposes, an efficient and robust method to genotype triploids is needed. We developed such a method for genotype calling from SNP arrays, and we implemented it in the R package named GenoTriplo. Our method requires no prior information on cluster positions and remains unaffected by shifted luminescence signals. The method relies on starting the clustering algorithm with an initial higher number of groups than expected from the ploidy level of the samples, followed by merging groups that are too close to each other to be considered as distinct genotypes. Accurate classification of SNPs is achieved through multiple thresholds of quality controls. We compared the performance of GenoTriplo with that of fitPoly, the only published method for triploid SNP genotyping with a free software access. This was assessed by comparing the genotypes generated by both methods for a dataset of 1232 triploid rainbow trout genotyped for 38,033 SNPs. The two methods were consistent for 89% of the genotypes, but for 26% of the SNPs, they exhibited a discrepancy in the number of different genotypes identified. For these SNPs, GenoTriplo had >95% concordance with fitPoly when fitPoly genotyped better. On the contrary, when GenoTriplo genotyped better, fitPoly had less than 50% concordance with GenoTriplo. GenoTriplo was more robust with less genotyping errors. It is also efficient at identifying low-frequency genotypes in the sample set. Finally, we assessed parentage assignment based on GenoTriplo genotyping and observed significant differences in mismatch rates between the best and second-best couples, indicating high confidence in the results. GenoTriplo could also be used to genotype diploids as well as individuals with higher ploidy level by adjusting a few input parameters.

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来源期刊
PLoS Computational Biology
PLoS Computational Biology BIOCHEMICAL RESEARCH METHODS-MATHEMATICAL & COMPUTATIONAL BIOLOGY
CiteScore
7.10
自引率
4.70%
发文量
820
审稿时长
2.5 months
期刊介绍: PLOS Computational Biology features works of exceptional significance that further our understanding of living systems at all scales—from molecules and cells, to patient populations and ecosystems—through the application of computational methods. Readers include life and computational scientists, who can take the important findings presented here to the next level of discovery. Research articles must be declared as belonging to a relevant section. More information about the sections can be found in the submission guidelines. Research articles should model aspects of biological systems, demonstrate both methodological and scientific novelty, and provide profound new biological insights. Generally, reliability and significance of biological discovery through computation should be validated and enriched by experimental studies. Inclusion of experimental validation is not required for publication, but should be referenced where possible. Inclusion of experimental validation of a modest biological discovery through computation does not render a manuscript suitable for PLOS Computational Biology. Research articles specifically designated as Methods papers should describe outstanding methods of exceptional importance that have been shown, or have the promise to provide new biological insights. The method must already be widely adopted, or have the promise of wide adoption by a broad community of users. Enhancements to existing published methods will only be considered if those enhancements bring exceptional new capabilities.
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