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从密集的 SNP 基因型推断微卫星等位基因,用于跨多个牛属和印度牛品种的亲子关系验证。

Imputation of microsatellite alleles from dense SNP genotypes for parentage verification across multiple Bos taurus and Bos indicus breeds.

机构信息

Bovine Functional Genomics Laboratory, BARC, Agriculture Research Service, United States Department of Agriculture Beltsville, MD, USA.

出版信息

Front Genet. 2013 Sep 18;4:176. doi: 10.3389/fgene.2013.00176. eCollection 2013.

Abstract

To assist cattle producers transition from microsatellite (MS) to single nucleotide polymorphism (SNP) genotyping for parental verification we previously devised an effective and inexpensive method to impute MS alleles from SNP haplotypes. While the reported method was verified with only a limited data set (N = 479) from Brown Swiss, Guernsey, Holstein, and Jersey cattle, some of the MS-SNP haplotype associations were concordant across these phylogenetically diverse breeds. This implied that some haplotypes predate modern breed formation and remain in strong linkage disequilibrium. To expand the utility of MS allele imputation across breeds, MS and SNP data from more than 8000 animals representing 39 breeds (Bos taurus and B. indicus) were used to predict 9410 SNP haplotypes, incorporating an average of 73 SNPs per haplotype, for which alleles from 12 MS markers could be accurately be imputed. Approximately 25% of the MS-SNP haplotypes were present in multiple breeds (N = 2 to 36 breeds). These shared haplotypes allowed for MS imputation in breeds that were not represented in the reference population with only a small increase in Mendelian inheritance inconsistancies. Our reported reference haplotypes can be used for any cattle breed and the reported methods can be applied to any species to aid the transition from MS to SNP genetic markers. While ~91% of the animals with imputed alleles for 12 MS markers had ≤1 Mendelian inheritance conflicts with their parents' reported MS genotypes, this figure was 96% for our reference animals, indicating potential errors in the reported MS genotypes. The workflow we suggest autocorrects for genotyping errors and rare haplotypes, by MS genotyping animals whose imputed MS alleles fail parentage verification, and then incorporating those animals into the reference dataset.

摘要

为了帮助牛场主从微卫星(MS)向单核苷酸多态性(SNP)基因分型过渡,以进行亲代验证,我们之前设计了一种有效且廉价的方法,可从 SNP 单倍型推断 MS 等位基因。虽然该方法仅在来自瑞士褐牛、圭内斯牛、荷斯坦牛和泽西牛的有限数据集(N=479)中得到验证,但一些 MS-SNP 单倍型关联在这些系统发育上多样化的品种中是一致的。这意味着一些单倍型早于现代品种形成,并且仍然处于强烈的连锁不平衡状态。为了扩大 MS 等位基因推断在品种间的应用,使用来自 39 个品种(牛和牛)的 8000 多只动物的 MS 和 SNP 数据来预测 9410 个 SNP 单倍型,每个单倍型平均包含 73 个 SNP,可准确推断 12 个 MS 标记的等位基因。大约 25%的 MS-SNP 单倍型存在于多个品种中(N=2 至 36 个品种)。这些共享的单倍型允许在参考群体中没有代表的品种中进行 MS 推断,而仅稍微增加孟德尔遗传不一致性。我们报告的参考单倍型可用于任何牛品种,并且报告的方法可应用于任何物种,以帮助从 MS 向 SNP 遗传标记过渡。虽然 12 个 MS 标记的推断等位基因的约 91%的动物与父母报告的 MS 基因型的孟德尔遗传冲突≤1,但对于我们的参考动物,这个数字为 96%,表明报告的 MS 基因型存在潜在错误。我们建议的工作流程通过 MS 基因分型那些推断的 MS 等位基因未能通过亲子关系验证的动物,然后将这些动物纳入参考数据集,自动纠正基因分型错误和罕见单倍型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b158/3776237/d994a49799c7/fgene-04-00176-g0001.jpg

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