Description Usage Arguments Details Value Author(s) Source Examples
iPsychCNV: Find Copy Number Variation (CNV) from SNP genotyping arrays.
1 2 3 4 5 6 7 | iPsychCNV(PathRawData = "/media/NeoScreen/NeSc_home/ILMN/iPSYCH/",
MINNumSNPs = 20, Cores = 1, hg = "hg19", NumFiles = "All",
Pattern = "22q11_*", MinLength = 10, SelectedFiles = NA, Skip = 10,
LCR = FALSE, PFB = NULL, chr = NA, penalty = 60, Quantile = FALSE,
QSpline = FALSE, sd = 0.18, recursive = FALSE, CPTmethod = "meanvar",
CNVSignal = 0.1, penvalue = 16, OutputPath = NA,
OutputFileName = "Test", OnlyCNVs = TRUE, SNPList = NULL)
|
LCR |
list: Low copy repeat region, list of SNPs that should be removed. |
PFB |
vector: Population frequency 0 to 1 for each SNP in the array. |
PathRawData: |
The path to the raw data files contining Log R Ratio (LRR) and B Allele Frequency (BAF) values. |
MINNumSNPs: |
Minimum number of SNPs per CNV, default = 20. |
Cores: |
Number of cores used, default = 1. |
Hg: |
Human genome version, default = hg19. |
NumFiles: |
Number of files to be analyzed from PathRawData. |
Pattern: |
File pattern in the PathRawData. Example: "*.txt". |
MinLength: |
Minimum CNV length, default = Unknown. |
SelectedFiles: |
List of file names that should be analyzed from PathRawData. |
Skip: |
Integer, the number of lines of the data file to skip before beginning to read data. |
Chr: |
Character, select a specific chromosome to be analyzed. |
Penalty: |
The coefficient of the penalty for degrees of freedom in the GCV criterion. From smooth.spline stats. |
Quantile: |
Logical, if quantile normalization should be applied or not, default = FALSE. |
QSpline: |
Logical, if a cubic smoothing spline should be used to normalize the data, default = FALSE. |
Sd: |
Numeric, LRR standard deviation for the quantile nomarlization, default = 0.18. |
Recursive: |
Logical, should the listing recurse into directories? From list.files base. |
CPTmethod: |
Character, method to find change points from changepoint package by Rebecca Killick. Default "meanvar", or "mean". |
CNVSignal: |
Numeric, minumum CNV signal to be consider a CNV in absolute value, default = 0.1, any CNV with mean LRR in the CNV region with abs(X) < 0.1 is ignored. |
Penvalue: |
Same as pen.value from function cpt.mean at changepoint R package by Rebecca Killick, default = 10. "The theoretical type I error e.g.0.05 when using the Asymptotic penalty. A vector of length 2 (min,max) if using the CROPS penalty. The value of the penalty when using the Manual penalty option - this can be a numeric value or text giving the formula to use. Available variables are, n=length of original data, null=null likelihood, alt=alternative likelihood, tau=proposed changepoint, diffparam=difference in number of alternatve and null parameters". |
OutputPath: |
Character, path for output. |
OutputFileName: |
Character, output file name. |
OnlyCNVs: |
Logical, if TRUE only CNVs with copy number state 0,1,3,4 will be returned. If FALSE will return also changepoint regions with CN = 2. |
SNPList: |
Getting Chr. and Position from another source than the RawFile - input should be the full path of the SNPList with columns: Name, Chr, amd Position. Any positions from the RawFile will be erased. A PFB-column is also allowed but will be overwritten by the PFB-parameter or exchanged with 0.5 |
Specifically designed to handle noisy data from amplified DNA on phenylketonuria (PKU) cards. The function is a pipeline using many subfunctions.
Data frame with predicted CNVs.
Marcelo Bertalan, Louise K. Hoeffding.
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