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利用50K SNP芯片对西班牙阿萨夫绵羊微卫星标记进行填充的准确性

Accuracy of Imputation of Microsatellite Markers from a 50K SNP Chip in Spanish Assaf Sheep.

作者信息

Marina Héctor, Suarez-Vega Aroa, Pelayo Rocío, Gutiérrez-Gil Beatriz, Reverter Antonio, Esteban-Blanco Cristina, Arranz Juan José

机构信息

Department of Animal Production, Faculty of Veterinary Medicine, University of León, Campus de Vegazana s/n, 24071 León, Spain.

CSIRO Agriculture and Food, Queensland Bioscience Precinct, 306 Carmody Rd., St Lucia, Brisbane, QLD 4067, Australia.

出版信息

Animals (Basel). 2021 Jan 5;11(1):86. doi: 10.3390/ani11010086.

Abstract

Transitioning from traditional to new genotyping technologies requires the development of bridging methodologies to avoid extra genotyping costs. This study aims to identify the optimum number of single nucleotide polymorphisms (SNPs) necessary to accurately impute microsatellite markers to develop a low-density SNP chip for parentage verification in the Assaf sheep breed. The accuracy of microsatellite marker imputation was assessed with three metrics: genotype concordance (C), genotype dosage (length r), and allelic dosage (allelic r), for all imputation scenarios tested (0.5-10 Mb microsatellite flanking SNP windows). The imputation accuracy for the three metrics analyzed for all haplotype lengths tested was higher than 0.90 (C), 0.80 (length r), and 0.75 (allelic r), indicating strong genotype concordance. The window with 2 Mb length provides the best accuracy for the imputation procedure and the design of an affordable low-density SNP chip for parentage testing. We additionally evaluated imputation performance under two null models, naive (imputing the most common allele) and random (imputing by randomly selecting the allele), which in comparison showed weak genotype concordances (0.41 and 0.15, respectively). Therefore, we describe a precise methodology in the present article to impute multiallelic microsatellite genotypes from a low-density SNP chip in sheep and solve the problem of parentage verification when different genotyping platforms have been used across generations.

摘要

从传统基因分型技术过渡到新一代基因分型技术需要开发桥接方法,以避免额外的基因分型成本。本研究旨在确定准确推算微卫星标记所需的单核苷酸多态性(SNP)的最佳数量,从而开发一种低密度SNP芯片,用于阿萨夫绵羊品种的亲子鉴定。在所有测试的推算方案(0.5 - 10 Mb微卫星侧翼SNP窗口)中,使用三个指标评估微卫星标记推算的准确性:基因型一致性(C)、基因型剂量(长度r)和等位基因剂量(等位基因r)。对所有测试单倍型长度分析的这三个指标的推算准确性均高于0.90(C)、0.80(长度r)和0.75(等位基因r),表明基因型一致性很强。2 Mb长度的窗口为推算过程以及设计用于亲子鉴定的经济实惠的低密度SNP芯片提供了最佳准确性。我们还在两种无效模型下评估了推算性能,即朴素模型(推算最常见等位基因)和随机模型(随机选择等位基因进行推算),相比之下,这两种模型的基因型一致性较弱(分别为0.41和0.15)。因此,我们在本文中描述了一种精确的方法,用于从绵羊的低密度SNP芯片推算多等位基因微卫星基因型,并解决当不同代使用不同基因分型平台时的亲子鉴定问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f44b/7824810/16ff64fbe076/animals-11-00086-g001.jpg

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