Imputation accuracy is robust to cattle reference genome updates

被引:8
|
作者
Milanesi, M. [1 ]
Vicario, D. [2 ]
Stella, A. [3 ,4 ]
Valentini, A. [5 ]
Ajmone-Marsan, P. [1 ]
Biffani, S. [3 ,4 ]
Biscarini, F. [4 ]
Jansen, G. [6 ]
Nicolazzi, E. L. [4 ]
机构
[1] Univ Cattolica Sacro Cuore, Ist Zootecn, I-29122 Piacenza, Italy
[2] Assoc Nazl Allevatori Pezzata Rossa Italiana, I-33100 Udine, Italy
[3] CNR, IBBA, I-26900 Lodi, Italy
[4] Fdn Parco Tecnol Padano PTP, I-26900 Lodi, Italy
[5] Dipartimento Innovaz Nei Sistemi Biol Agroaliment, I-01100 Viterbo, Italy
[6] Dekoppel Consulting, I-10010 Chiaverano, TO, Italy
关键词
genotype imputation; reference genome assembly; SNP and bovine; GENOTYPE IMPUTATION; ASSOCIATION; INFORMATION; INFERENCE;
D O I
10.1111/age.12251
中图分类号
S8 [畜牧、 动物医学、狩猎、蚕、蜂];
学科分类号
0905 ;
摘要
Genotype imputation is routinely applied in a large number of cattle breeds. Imputation has become a need due to the large number of SNP arrays with variable density (currently, from 2900 to 777962 SNPs). Although many authors have studied the effect of different statistical methods on imputation accuracy, the impact of a (likely) change in the reference genome assembly on imputation from lower to higher density has not been determined so far. In this work, 1021 Italian Simmental SNP genotypes were remapped on the three most recent reference genome assemblies. Four imputation methods were used to assess the impact of an update in the reference genome. As expected, the four methods behaved differently, with large differences in terms of accuracy. Updating SNP coordinates on the three tested cattle reference genome assemblies determined only a slight variation on imputation results within method.
引用
收藏
页码:69 / 72
页数:4
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