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GWAS-SNP总览:MANHATTAN++

GWAS-SNP总览:MANHATTAN++

作者: 程凉皮儿 | 来源:发表于2020-02-17 10:29 被阅读0次

    参考学习资料:https://github.com/cgrace1978/manhplot/
    MANHATTAN++ is software to generate a transposed manhattan heatmap, implemented in R.

    Getting Started

    You need to install the latest version of R The R package can be run on Windows and Linux, you must specify paths to the filenames you are using as input and output.

    To install the software from the GIT repository:

    install.packages("devtools")
    library(devtools)
    
    install_github("cgrace1978/manhplot", dependencies = T, force = T)
    
    

    The following command will run the plot with default data in the package. The pdf (test.pdf) will be created in the current working directory in R (This can be viewed using the getwd() command):

    library(manhplot)
    
    infile<-system.file("extdata","cad.add.160614_manhformat.txt.gz",package = "manhplot")
    configfile<-system.file("extdata","config.txt", package = "manhplot")
    snpfile<-system.file("extdata","56cad.add.160614.variants.txt", package = "manhplot")
    
    ## Run manhattan++ with the default paramaters and files included in the package
    manhplusplot(infile = infile,outfile = "test", configfile = configfile, snpfile = snpfile)
    
    

    For more information on using manhattan++ please visit the Manhattan++ wiki

    Citation

    To use Manhattan++ please cite the following paper:

    Grace et al

    Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers

    BMC Bioinformatics 2019; 20(1):610

    PubMed: 31775616

    运行结果如下:

    > infile
    [1] "/Library/Frameworks/R.framework/Versions/3.6/Resources/library/manhplot/extdata/cad.add.160614_manhformat.txt.gz"
    > configfile
    [1] "/Library/Frameworks/R.framework/Versions/3.6/Resources/library/manhplot/extdata/config.txt"
    > snpfile
    [1] "/Library/Frameworks/R.framework/Versions/3.6/Resources/library/manhplot/extdata/56cad.add.160614.variants.txt"
    

    在终端中显示为:

    (base) Cheng-MacBook-Pro:~ chelsea$ cd /Library/Frameworks/R.framework/Versions/3.6/Resources/library/manhplot/extdata/
    (base) Cheng-MacBook-Pro:extdata chelsea$ ll
    total 2256
    -rw-rw-r--  1 chelsea  admin     3394 Feb 17 09:58 56cad.add.160614.variants.txt
    -rw-rw-r--  1 chelsea  admin  1145757 Feb 17 09:58 cad.add.160614_manhformat.txt.gz
    -rw-rw-r--  1 chelsea  admin     1191 Feb 17 09:58 config.txt
    (base) Cheng-MacBook-Pro:extdata chelsea$ head 56cad.add.160614.variants.txt 
    markername  gene    chr pos eaf OR  Pvalue  novel
    rs11206510  PCSK9   1   55496039    0.847627    1.08    2.34E-0FALSE
    rs9970807   PPAP2B  1   56965664    0.915097    1.13    5E-14   FALSE
    rs7528419   SORT1   1   109817192   0.78582 1.12    1.97E-23    FALSE
    rs6689306   IL6R    1   154395946   0.447545    1.06    2.6E-09FALSE
    rs67180937  MIA3    1   222823743   0.663052    1.08    1.01E-1FALSE
    rs16986953  AK097927    2   19942473    0.104706    1.09    1.45E-08    FALSE
    2:21378433:D    APOB    2   21378433    0.745655    1.07    2.89E-0FALSE
    2:44074126:D    ABCG5-ABCG8 2   44074126    0.744839    1.06    0.000000026 FALSE
    rs7568458   VAMP5-VAMP8-GGCX    2   85788175    0.448518    1.06    3.62E-10    FALSE
    (base) Cheng-MacBook-Pro:extdata chelsea$ zless -S cad.add.160614_manhformat.txt.gz |head
    chr pos pvalue  maf conseq
    1   921716  .0016563    .499    0
    1   924528  .009725 .543    0
    1   930751  .0014219    .349    0
    1   931362  .001282 .354    0
    1   933790  .0066479    .552    0
    1   935222  .0038324    .546    0
    1   940005  .0012462    .377    0
    1   941284  .0024818    .355    0
    1   941334  .001352 .354    0
    (base) Cheng-MacBook-Pro:extdata chelsea$ head config.txt 
    #### CONFIG file for use with MANH++ - Do not modify the first 10 lines                     
    ## min.count: The lower cell count threshold to accept this config                      
    ## max.count: The upper cell count threshold to accept this config                      
    ## maf: Is MAF detection active for this config - is there any variants within a cell with MAF < threshold? 
    ## conseq: Is HIGH impact consequence active? Are there any variants with HIGH impact consequence in the cell?  
    ## col: The colour which cells for this config                          
    ## idx: the index to use for this cell in the heatmap - MUST BE CONSECUTIVE FROM START TO END - STARTING AT 1   
    "## type: val - an config entry, oddchr - the odd chromosome, evenchr - the even chromosome"            
    ## report: Are these annotations labeled on the heatmap                         
    #####                           
    

    曼哈顿图展示如下:

    看上去比较高级
    具体参数解析见原文https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-019-3201-y

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