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Published on: December 23, 2018
Construction and Evaluation of a High-Quality Reference Panel for Dairy Goats
Jianqing Zhao1,2, Wei Wang2, Jiayidaer Kamalibieke2
1College of Animal Science, Xinjiang Agricultural University, Urumqi 830052, China.
None:
High-quality reference panels are important resources for genotype imputation and genomic selection in dairy goats; however, dairy-goat reference panels remain limited in sample size, population representation, and standardized workflow evaluation. In this study, 1092 dairy-goat samples from multiple populations, and public resequencing datasets, were integrated to construct and evaluate a dairy-goat reference panel for low-coverage whole-genome sequencing (lcWGS) and SNP-array data. Phasing and imputation strategies were compared using Beagle 5.4, SHAPEIT5, GLIMPSE2, and a BaseVar + Beagle pipeline, and the effects of reference-panel diversity, panel size, sequencing depth, and genotyping platform were evaluated using concordance, imputation quality score (IQS), and squared dosage correlation (r2). Beagle 5.4 phasing combined with GLIMPSE2 imputation reduced computational time by approximately 40% while maintaining high imputation accuracy. The largest evaluated panel (n = 1000) achieved concordance = 0.98, IQS = 0.94, and r2 = 0.91, while a practical population-size threshold of 600-800 individuals balanced accuracy gains and resource costs. Reference panels containing two to three genetically similar dairy-goat populations achieved stable performance, with concordance values above 0.90 and chromosome-level r2 values above 0.91. Low-coverage sequencing at 0.5× or above effectively reduced the loss of accuracy for low-frequency variants, whereas imputed SNP-array data increased marker density from 18 to 180 to 1850-18,500 SNPs per 1 Mb window in representative regions, corresponding to an approximately 103-fold increase, and produced more concentrated GWAS signal peaks on Chr5, Chr8, Chr17, and Chr19. These findings establish a technical framework and reference resource for genotype imputation, association analysis, and genomic selection in dairy goats.
