diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java index 60f0fcb0a..880dba5d0 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java @@ -79,24 +79,45 @@ public class BeagleOutputToVCFWalker extends RodWalker { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); + /** + * If this argument is present, the original allele frequencies and counts from this vcf are added as annotations ACH,AFH and ANH. at each record present in this vcf + */ @Input(fullName="comp", shortName = "comp", doc="Comparison VCF file", required=false) public RodBinding comp; + + /** + * This required argument is used to annotate each site in the vcf INFO field with R2 annotation. Will be NaN if Beagle determined there are no variant samples. + */ @Input(fullName="beagleR2", shortName = "beagleR2", doc="Beagle-produced .r2 file containing R^2 values for all markers", required=true) public RodBinding beagleR2; + /** + * These values will populate the GL field for each sample and contain the posterior probability of each genotype given the data after phasing and imputation. + */ @Input(fullName="beagleProbs", shortName = "beagleProbs", doc="Beagle-produced .probs file containing posterior genotype probabilities", required=true) public RodBinding beagleProbs; + /** + * By default, all genotypes will be marked in the VCF as "phased", using the "|" separator after Beagle. + */ @Input(fullName="beaglePhased", shortName = "beaglePhased", doc="Beagle-produced .phased file containing phased genotypes", required=true) public RodBinding beaglePhased; @Output(doc="VCF File to which variants should be written",required=true) protected VCFWriter vcfWriter = null; + /** + * If this argument is absent, and if Beagle determines that there is no sample in a site that has a variant genotype, the site will be marked as filtered (Default behavior). + * If the argument is present, the site won't be marked as filtered under this condition even if there are no variant genotypes. + */ @Argument(fullName="dont_mark_monomorphic_sites_as_filtered", shortName="keep_monomorphic", doc="If provided, we won't filter sites that beagle tags as monomorphic. Useful for imputing a sample's genotypes from a reference panel" ,required=false) public boolean DONT_FILTER_MONOMORPHIC_SITES = false; + /** + * Value between 0 and 1. If the probability of getting a genotype correctly (based on the posterior genotype probabilities and the actual genotype) is below this threshold, + * a genotype will be substitute by a no-call. + */ @Argument(fullName="no" + "call_threshold", shortName="ncthr", doc="Threshold of confidence at which a genotype won't be called", required=false) private double noCallThreshold = 0.0; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java index 07793fd7b..87695077d 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java @@ -112,6 +112,9 @@ public class ProduceBeagleInputWalker extends RodWalker { @Argument(fullName = "bootstrap_vcf",shortName = "bvcf", doc = "Output a VCF with the records used for bootstrapping filtered out", required = false) VCFWriter bootstrapVCFOutput = null; + /** + * If sample gender is known, this flag should be set to true to ensure that Beagle treats male Chr X properly. + */ @Argument(fullName = "checkIsMaleOnChrX", shortName = "checkIsMaleOnChrX", doc = "Set to true when Beagle-ing chrX and want to ensure male samples don't have heterozygous calls.", required = false) public boolean CHECK_IS_MALE_ON_CHR_X = false;