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APIS:一种自适应亲子关系推断软件,可容忍父母缺失。

APIS: An auto-adaptive parentage inference software that tolerates missing parents.

机构信息

SYSAAF, Station LPGP/INRA, Rennes, France.

GABI, INRA, AgroParisTech, Université Paris-Saclay, Jouy-en-Josas, France.

出版信息

Mol Ecol Resour. 2020 Mar;20(2):579-590. doi: 10.1111/1755-0998.13103. Epub 2019 Nov 15.

Abstract

In the context of parentage assignment using genomic markers, key issues are genotyping errors and an absence of parent genotypes because of sampling, traceability or genotyping problems. Most likelihood-based parentage assignment software programs require a priori estimates of genotyping errors and the proportion of missing parents to set up meaningful assignment decision rules. We present here the R package APIS, which can assign offspring to their parents without any prior information other than the offspring and parental genotypes, and a user-defined, acceptable error rate among assigned offspring. Assignment decision rules use the distributions of average Mendelian transmission probabilities, which enable estimates of the proportion of offspring with missing parental genotypes. APIS has been compared to other software (CERVUS, VITASSIGN), on a real European seabass (Dicentrarchus labrax) single nucleotide polymorphism data set. The type I error rate (false positives) was lower with APIS than with other software, especially when parental genotypes were missing, but the true positive rate was also lower, except when the theoretical exclusion power reached 0.99999. In general, APIS provided assignments that satisfied the user-set acceptable error rate of 1% or 5%, even when tested on simulated data with high genotyping error rates (1% or 3%) and up to 50% missing sires. Because it uses the observed distribution of Mendelian transmission probabilities, APIS is best suited to assigning parentage when numerous offspring (>200) are genotyped. We have demonstrated that APIS is an easy-to-use and reliable software for parentage assignment, even when up to 50% of sires are missing.

摘要

在使用基因组标记进行亲权鉴定的背景下,关键问题是基因型错误和由于采样、可追溯性或基因型问题导致的父母基因型缺失。大多数基于最大似然的亲权鉴定软件程序需要先验估计基因型错误率和缺失父母的比例,以制定有意义的鉴定决策规则。我们在这里介绍了 R 包 APIS,它可以在没有任何先验信息的情况下将后代分配给他们的父母,除了后代和父母的基因型之外,还需要用户定义的、可接受的分配后代的错误率。分配决策规则使用平均孟德尔传递概率分布,这可以估计缺失父母基因型的后代比例。APIS 已经在一个真实的欧洲鲈鱼(Dicentrarchus labrax)单核苷酸多态性数据集上与其他软件(CERVUS、VITASSIGN)进行了比较。APIS 的Ⅰ型错误率(假阳性)低于其他软件,尤其是当父母基因型缺失时,但真阳性率也较低,除非理论排除率达到 0.99999。一般来说,APIS 提供的分配结果满足用户设定的可接受错误率为 1%或 5%,即使在测试模拟数据时,其基因型错误率高达 1%或 3%,且多达 50%的雄性缺失。由于它使用观察到的孟德尔传递概率分布,APIS 最适合于在大量后代(>200 个)被基因分型时进行亲权鉴定。我们已经证明,即使多达 50%的雄性缺失,APIS 也是一种易于使用和可靠的亲权鉴定软件。

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