方法1
使用软件illumina2preGS,
功能是:仅读取 AB 代码并生成整型变量 0、1、2 或 5 用于缺失
输入文件是FinalReport和SNP_Map.txt文件
注意这SNP_Map.txt文件是以TAB分割。
在liunx中将空格分割改为TAB分割命令:
sed -i 's/\s\+/\t/g' SNP_Map.txt
转换文件格式命令
./illumina2preGS --snpfile A3672_Batch_01_528_samples_Final_Report.txt --mapfile SNP_Map.txt --genome 1 --sortmap
一些OPTION说明
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输出文件结果
image.png例子
----------------------------------------------------
| illumina2preGS |
| Converts FinalReport files from |
| Illumina GenomeStudio into files |
| suitables for BLUPF90 family programs |
| |
| 2011 - Version 1.31 |
| (Last update: Nov 05, 2021) |
| |
| INIA Las Brujas, Uruguay |
----------------------------------------------------
Options
--snpfile A3672_Batch_01_528_samples_Final_Report.txt
--mapfile SNP_Map.txt
--genome 1
--sortmap
Current options
Genome: bovine
X -> 30
Y -> 31
MT -> 32
0 -> 33
Size for sample ID: 19
MAP file: SNP_Map.txt
Column number for SNP Name: 1
Column number for Chromosome: 2
Column number for Position: 3
SNP file: A3672_Batch_01_528_samples_Final_Report.txt
Column number for SNP Name: 1
Column number for Sample Id: 2
Column number for AB code: 5
Number of snps from Mapfile "SNP_Map.txt": 777962
Number of lines read: 409985974
Number of samples: 527
Number of converted samples: 527
Number of wrong samples: 0
SNP order: by chr,position
Genotype Codes: indicate number of copies of B allele
0 -> AA
1 -> AB or BA
2 -> BB
5 -> No Call
Output files
Map file: "snp_map"
SNP file: "snps2pregs"
方法2
使用PLINK将FinalReport先转为lgen+map+fam 文件,再将其转为BLUPF90格式(链接:https://www.jianshu.com/p/259427de44d4).
另外信息
从Final Reprot 中可以查看CNV:
文章链接:https://doi.org/10.1186/s12711-018-0414-x
参考:说明文档连链接:http://nce.ads.uga.edu/wiki/doku.php?id=readme.illumina2pregs
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