/// <summary>
/// Write out the ploidy bed file if ploidy information is available from the vcf header
/// Only create the normal XX or XY ploidy bed file so that Canvas can properly classify any abnormalities as variant.
/// If ploidy Y is > 1 produce the XY ploidy bed file, otherwise produce the XX ploidy bed file
/// </summary>
public IFileLocation CreateGermlinePloidyBed(Vcf vcf, GenomeMetadata genomeMetadata, IDirectoryLocation sampleSandbox)
{
string sexKaryotype = PloidyCorrector.GetSexChromosomeKaryotypeFromVcfHeader(vcf.VcfFile.FullName);
if (sexKaryotype == null)
{
_logger.Warn($"Sex chromosome ploidy not found in {vcf.VcfFile} header. No ploidy will be provided to Canvas.");
return(null);
}
_logger.Info($"Found sex chromosome ploidy {PloidyCorrector.PrintPloidy(sexKaryotype)} in {vcf.VcfFile}");
var ploidyInfo = new SamplePloidyInfo();
IFileLocation ploidyBed = sampleSandbox.GetFileLocation("ploidy.bed.gz");
if (sexKaryotype.ToLower().Contains("y"))
{
ploidyInfo.ProvidedPloidy = SexPloidyInfo.NormalMale;
_logger.Info($"Creating male ploidy bed file at {ploidyBed}.");
}
else
{
ploidyInfo.ProvidedPloidy = SexPloidyInfo.NormalFemale;
_logger.Info($"Creating female ploidy bed file at {ploidyBed}.");
}
string headerLine = $"{PloidyCorrector.ReferenceSexChromosomeKaryotype}={PloidyCorrector.PrettyPrintPloidy(ploidyInfo.ProvidedPloidyX.Value, ploidyInfo.ProvidedPloidyY.Value)}";
_ploidyFixer.WritePloidyBedFile(ploidyInfo, genomeMetadata, _ploidyFixer.GetParRegions(genomeMetadata),
ploidyBed.FullName, headerLine, ploidy => true);
return(ploidyBed);
}
public CanvasEnrichmentInput(Bam bam, GenomeMetadata genomeMetadata,
IEnumerable <Bam> controlBamPaths,
NexteraManifest nexteraManifest,
CanvasEnrichmentPrecomputedControl precomputedControl,
SamplePloidyInfo ploidyInfo,
IFileLocation predefinedBinsFile,
CanvasPcaModels pcaModels)
{
Bam = bam;
GenomeMetadata = genomeMetadata;
NexteraManifest = nexteraManifest;
PrecomputedControl = precomputedControl;
NormalBamPaths = new ReadOnlyCollection <Bam>(controlBamPaths.ToList());
PloidyInfo = ploidyInfo;
PredefinedBinsFile = predefinedBinsFile;
PcaModels = pcaModels;
}