diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCaller.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCaller.java index 0ac337038..f4622fa30 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCaller.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCaller.java @@ -149,7 +149,7 @@ import java.util.*; * *

Output

*

- * VCF file with raw, unrecalibrated SNP and indel calls. + * VCF file with raw, unfiltered SNP and indel calls. These must be filtered either by variant recalibration (best) or hard-filtering before use in downstream analyses. *

* *

Examples

@@ -200,7 +200,6 @@ import java.util.*; * -T HaplotypeCaller * -R reference/human_g1k_v37.fasta * -I sample1.bam \ - * -recoverDanglingHeads \ * -dontUseSoftClippedBases \ * [--dbsnp dbSNP.vcf] \ * -stand_call_conf 20 \ @@ -211,17 +210,12 @@ import java.util.*; * *

Caveats

* * - * @author rpoplin - * @since 8/22/11 */ @DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) @@ -252,7 +246,10 @@ public class HaplotypeCaller extends ActiveRegionWalker, In @Argument(fullName="heterogeneousKmerSizeResolution",shortName="hksr",doc="how to solve heterogeneous kmer situations using the fast method",required=false) protected HeterogeneousKmerSizeResolution heterogeneousKmerSizeResolution = HeterogeneousKmerSizeResolution.COMBO_MIN; - @Output(fullName="graphOutput", shortName="graph", doc="File to which debug assembly graph information should be written", required = false, defaultToStdout = false) + /** + * This argument is meant for debugging and is not immediately useful for normal analysis use. + */ + @Output(fullName="graphOutput", shortName="graph", doc="Write debug assembly graph information to this file", required = false, defaultToStdout = false) protected PrintStream graphWriter = null; /** @@ -286,24 +283,26 @@ public class HaplotypeCaller extends ActiveRegionWalker, In private HaplotypeBAMWriter haplotypeBAMWriter; /** - * The type of BAM output we want to see. + * The type of BAM output we want to see. This determines whether HC will write out all of the haplotypes it + * considered (top 128 max) or just the ones that were selected as alleles and assigned to samples. */ @Advanced - @Argument(fullName="bamWriterType", shortName="bamWriterType", doc="How should haplotypes be written to the BAM?", required = false) + @Argument(fullName="bamWriterType", shortName="bamWriterType", doc="Which haplotypes should be written to the BAM?", required = false) public HaplotypeBAMWriter.Type bamWriterType = HaplotypeBAMWriter.Type.CALLED_HAPLOTYPES; /** - * If set, certain "early exit" optimizations in HaplotypeCaller will be disabled. This is most likely to be useful if - * you're using the -bamout argument to examine the placement of reads following reassembly and are interested in the - * reads in regions with no variations. The -forceActive and -dontTrimActiveRegions arguments may also be necessary. + * If set, certain "early exit" optimizations in HaplotypeCaller, which aim to save compute and time by skipping + * calculations if an ActiveRegion is determined to contain no variants, will be disabled. This is most likely to be useful if + * you're using the -bamout argument to examine the placement of reads following reassembly and are interested in seeing the mapping of + * reads in regions with no variations. Setting the -forceActive and -dontTrimActiveRegions flags may also be necessary. */ @Advanced - @Argument(fullName = "disableOptimizations", shortName="disableOptimizations", doc="Should HaplotypeCaller skip expensive calculations in active regions with no variants?", + @Argument(fullName = "disableOptimizations", shortName="disableOptimizations", doc="Don't skip calculations in ActiveRegions with no variants", required = false) private boolean disableOptimizations = false; /** - * rsIDs from this file are used to populate the ID column of the output. Also, the DB INFO flag will be set when appropriate. + * rsIDs from this file are used to populate the ID column of the output. Also, the DB INFO flag will be set when appropriate. * dbSNP is not used in any way for the calculations themselves. */ @ArgumentCollection @@ -320,9 +319,8 @@ public class HaplotypeCaller extends ActiveRegionWalker, In /** * If a call overlaps with a record from the provided comp track, the INFO field will be annotated - * as such in the output with the track name (e.g. -comp:FOO will have 'FOO' in the INFO field). - * Records that are filtered in the comp track will be ignored. - * Note that 'dbSNP' has been special-cased (see the --dbsnp argument). + * as such in the output with the track name (e.g. -comp:FOO will have 'FOO' in the INFO field). Records that are + * filtered in the comp track will be ignored. Note that 'dbSNP' has been special-cased (see the --dbsnp argument). */ @Advanced @Input(fullName="comp", shortName = "comp", doc="comparison VCF file", required=false) @@ -335,58 +333,86 @@ public class HaplotypeCaller extends ActiveRegionWalker, In public boolean alwaysAppendDbsnpId() { return false; } /** - * Which annotations to add to the output VCF file. See the VariantAnnotator -list argument to view available annotations. + * Which annotations to add to the output VCF file. The single value 'none' removes the default annotations. See the VariantAnnotator -list argument to view available annotations. */ @Advanced - @Argument(fullName="annotation", shortName="A", doc="One or more specific annotations to apply to variant calls. The single value 'none' removes the default annotations", required=false) + @Argument(fullName="annotation", shortName="A", doc="One or more specific annotations to apply to variant calls", required=false) protected List annotationsToUse = new ArrayList<>(Arrays.asList(new String[]{"ClippingRankSumTest", "DepthPerSampleHC"})); /** * Which annotations to exclude from output in the VCF file. Note that this argument has higher priority than the -A or -G arguments, - * so annotations will be excluded even if they are explicitly included with the other options. + * so these annotations will be excluded even if they are explicitly included with the other options. */ @Advanced @Argument(fullName="excludeAnnotation", shortName="XA", doc="One or more specific annotations to exclude", required=false) protected List annotationsToExclude = new ArrayList<>(Arrays.asList(new String[]{"SpanningDeletions", "TandemRepeatAnnotator"})); /** - * Which groups of annotations to add to the output VCF file. See the VariantAnnotator -list argument to view available groups. + * Which groups of annotations to add to the output VCF file. The single value 'none' removes the default group. See + * the VariantAnnotator -list argument to view available groups. Note that this usage is not recommended because + * it obscures the specific requirements of individual annotations. Any requirements that are not met (e.g. failing + * to provide a pedigree file for a pedigree-based annotation) may cause the run to fail. */ - @Argument(fullName="group", shortName="G", doc="One or more classes/groups of annotations to apply to variant calls. The single value 'none' removes the default group", required=false) + @Argument(fullName="group", shortName="G", doc="One or more classes/groups of annotations to apply to variant calls", required=false) protected String[] annotationClassesToUse = { "Standard" }; @ArgumentCollection private HaplotypeCallerArgumentCollection SCAC = new HaplotypeCallerArgumentCollection(); - @Argument(fullName="sample_name", shortName = "sn", doc="Name of single sample to use from a multi-sample bam. The name is case-sensitive", required=false) + /** + * You can use this argument to specify that HC should process a single sample out of a multisample BAM file. This + * is especially useful if your samples are all in the same file but you need to run them individually through HC + * in -ERC GVC mode (which is the recommended usage). Note that the name is case-sensitive. + */ + @Argument(fullName="sample_name", shortName = "sn", doc="Name of single sample to use from a multi-sample bam", required=false) protected String sampleNameToUse = null; // ----------------------------------------------------------------------------------------------- // arguments to control internal behavior of the read threading assembler // ----------------------------------------------------------------------------------------------- + /** + * Multiple kmer sizes can be specified, using e.g. `-kmerSize 10 -kmerSize 25`. + */ @Advanced @Argument(fullName="kmerSize", shortName="kmerSize", doc="Kmer size to use in the read threading assembler", required = false) protected List kmerSizes = Arrays.asList(10, 25); + /** + * When graph cycles are detected, the normal behavior is to increase kmer sizes iteratively until the cycles are + * resolved. Disabling this behavior may cause the program to give up on assembling the ActiveRegion. + */ @Advanced - @Argument(fullName="dontIncreaseKmerSizesForCycles", shortName="dontIncreaseKmerSizesForCycles", doc="Should we disable the iterating over kmer sizes when graph cycles are detected?", required = false) + @Argument(fullName="dontIncreaseKmerSizesForCycles", shortName="dontIncreaseKmerSizesForCycles", doc="Disable iterating over kmer sizes when graph cycles are detected", required = false) protected boolean dontIncreaseKmerSizesForCycles = false; + /** + * By default, the program does not allow processing of reference sections that contain non-unique kmers. Disabling + * this check may cause problems in the assembly graph. + */ @Advanced - @Argument(fullName="allowNonUniqueKmersInRef", shortName="allowNonUniqueKmersInRef", doc="Should we allow graphs which have non-unique kmers in the reference?", required = false) + @Argument(fullName="allowNonUniqueKmersInRef", shortName="allowNonUniqueKmersInRef", doc="Allow graphs that have non-unique kmers in the reference", required = false) protected boolean allowNonUniqueKmersInRef = false; + /** + * If fewer samples than the specified number pass the minPruning threshold for a given path, that path will be eliminated from the graph. + */ @Advanced - @Argument(fullName="numPruningSamples", shortName="numPruningSamples", doc="The number of samples that must pass the minPuning factor in order for the path to be kept", required = false) + @Argument(fullName="numPruningSamples", shortName="numPruningSamples", doc="Number of samples that must pass the minPruning threshold", required = false) protected int numPruningSamples = 1; + /** + * As of version 3.3, this argument is no longer needed because dangling end recovery is now the default behavior. See GATK 3.3 release notes for more details. + */ @Deprecated - @Argument(fullName="recoverDanglingHeads", shortName="recoverDanglingHeads", doc="This argument is no longer needed as it is now the default behavior", required = false) + @Argument(fullName="recoverDanglingHeads", shortName="recoverDanglingHeads", doc="This argument is deprecated since version 3.3", required = false) protected boolean DEPRECATED_RecoverDanglingHeads = false; + /** + * By default, the read threading assembler will attempt to recover dangling heads and tails. See the `minDanglingBranchLength` argument documentation for more details. + */ @Hidden - @Argument(fullName="doNotRecoverDanglingBranches", shortName="doNotRecoverDanglingBranches", doc="Should we disable dangling head and tail recovery in the read threading assembler?", required = false) + @Argument(fullName="doNotRecoverDanglingBranches", shortName="doNotRecoverDanglingBranches", doc="Disable dangling head and tail recovery", required = false) protected boolean doNotRecoverDanglingBranches = false; /** @@ -395,11 +421,15 @@ public class HaplotypeCaller extends ActiveRegionWalker, In * try to rescue it. A smaller number here will lead to higher sensitivity to real variation but also to a higher number of false positives. */ @Advanced - @Argument(fullName="minDanglingBranchLength", shortName="minDanglingBranchLength", doc="Minimum length of a dangling branch to attempt recovery in the read threading assembler", required = false) + @Argument(fullName="minDanglingBranchLength", shortName="minDanglingBranchLength", doc="Minimum length of a dangling branch to attempt recovery", required = false) protected int minDanglingBranchLength = 4; + /** + * This argument is specifically intended for 1000G consensus analysis mode. Setting this flag will inject all + * provided alleles to the assembly graph but will not forcibly genotype all of them. + */ @Advanced - @Argument(fullName="consensus", shortName="consensus", doc="In 1000G consensus mode. Inject all provided alleles to the assembly graph but don't forcibly genotype all of them.", required = false) + @Argument(fullName="consensus", shortName="consensus", doc="1000G consensus mode", required = false) protected boolean consensusMode = false; // ----------------------------------------------------------------------------------------------- @@ -408,33 +438,16 @@ public class HaplotypeCaller extends ActiveRegionWalker, In /** - * The GQ partition intervals + * When HC is run in reference confidence mode with banding compression enabled (-ERC GVCF), homozygous-reference + * sites are compressed into bands of similar genotype quality (GQ) that are emitted as a single VCF record. See + * the FAQ documentation for more details about the GVCF format. * - * Should be a non-empty list of boundaries. For example, suppose this variable is - * - * [A, B, C] - * - * We would partition our hom-ref sites into the following bands: - * - * X < A - * A <= X < B - * B <= X < C - * X >= C - * - * For example, specifying bands as (1, 10, 20, 30, 40, 50) give the following GQ blocks: - * - * [0, 0] - * (0, 10] - * (10, 20] - * (20, 30] - * (30, 40] - * (40, 50] - * (50, 99] - * - * Note that in the GATK GQ values are capped at 99. + * This argument allows you to set the GQ boundaries. HC expects a list of multiple GQ threshold values. To pass + * multiple values, you provide them one by one with the argument, as in `-GQB 10 -GQB 20 -GQB 30` and so on. Note + * that GQ values are capped at 99 in the GATK. */ @Advanced - @Argument(fullName="GVCFGQBands", shortName="GQB", doc="Emit experimental reference confidence scores", required = false) + @Argument(fullName="GVCFGQBands", shortName="GQB", doc="GQ thresholds for reference confidence bands", required = false) protected List GVCFGQBands = new ArrayList(70) {{ for (int i=1; i<=60; ++i) add(i); add(70); add(80); add(90); add(99); @@ -456,20 +469,22 @@ public class HaplotypeCaller extends ActiveRegionWalker, In // ----------------------------------------------------------------------------------------------- /** - * The minimum confidence needed for a given base for it to be used in variant calling. + * Bases with a quality below this threshold will not be used for calling. */ @Argument(fullName = "min_base_quality_score", shortName = "mbq", doc = "Minimum base quality required to consider a base for calling", required = false) public byte MIN_BASE_QUALTY_SCORE = 10; /** - * Users should be aware that this argument can really affect the results of the variant calling and should exercise caution. - * Using a prune factor of 1 (or below) will prevent any pruning from the graph which is generally not ideal; it can make the + * Paths with fewer supporting kmers than the specified threshold will be pruned from the graph. + * + * Be aware that this argument can dramatically affect the results of variant calling and should only be used with great caution. + * Using a prune factor of 1 (or below) will prevent any pruning from the graph, which is generally not ideal; it can make the * calling much slower and even less accurate (because it can prevent effective merging of "tails" in the graph). Higher values * tend to make the calling much faster, but also lowers the sensitivity of the results (because it ultimately requires higher * depth to produce calls). */ @Advanced - @Argument(fullName="minPruning", shortName="minPruning", doc = "The minimum allowed pruning factor in assembly graph. Paths with < X supporting kmers are pruned from the graph", required = false) + @Argument(fullName="minPruning", shortName="minPruning", doc = "Minimum support to not prune paths in the graph", required = false) protected int MIN_PRUNE_FACTOR = 2; @Advanced @@ -477,18 +492,18 @@ public class HaplotypeCaller extends ActiveRegionWalker, In protected int gcpHMM = 10; /** - * If this flag is provided, the haplotype caller will include unmapped reads in the assembly and calling + * If this flag is provided, the haplotype caller will include unmapped reads (that have chromosomal coordinates) in the assembly and calling * when these reads occur in the region being analyzed. Typically, for paired end analyses, one pair of the * read can map, but if its pair is too divergent then it may be unmapped and placed next to its mate, taking * the mates contig and alignment start. If this flag is provided the haplotype caller will see such reads, * and may make use of them in assembly and calling, where possible. */ @Hidden - @Argument(fullName="includeUmappedReads", shortName="unmapped", doc="If provided, unmapped reads with chromosomal coordinates (i.e., those placed to their maps) will be included in the assembly and calling", required = false) + @Argument(fullName="includeUmappedReads", shortName="unmapped", doc="Include unmapped reads with chromosomal coordinates", required = false) protected boolean includeUnmappedReads = false; @Advanced - @Argument(fullName="useAllelesTrigger", shortName="allelesTrigger", doc = "If specified, use additional trigger on variants found in an external alleles file", required=false) + @Argument(fullName="useAllelesTrigger", shortName="allelesTrigger", doc = "Use additional trigger on variants found in an external alleles file", required=false) protected boolean USE_ALLELES_TRIGGER = false; /** @@ -501,29 +516,33 @@ public class HaplotypeCaller extends ActiveRegionWalker, In * read for all of these events. With this parameter set to Q30, though, the maximum evidence against any haplotype * that this (and any) read could contribute is Q30. * - * Set this term to any negative number to turn off the global mapping rate + * Set this term to any negative number to turn off the global mapping rate. */ @Advanced @Argument(fullName="phredScaledGlobalReadMismappingRate", shortName="globalMAPQ", doc="The global assumed mismapping rate for reads", required = false) protected int phredScaledGlobalReadMismappingRate = 45; /** - * Assembly graph can be quite complex, and could imply a very large number of possible haplotypes. Each haplotype + * The assembly graph can be quite complex, and could imply a very large number of possible haplotypes. Each haplotype * considered requires N PairHMM evaluations if there are N reads across all samples. In order to control the * run of the haplotype caller we only take maxNumHaplotypesInPopulation paths from the graph, in order of their * weights, no matter how many paths are possible to generate from the graph. Putting this number too low * will result in dropping true variation because paths that include the real variant are not even considered. + * You can consider increasing this number when calling organisms with high heterozygosity. */ @Advanced - @Argument(fullName="maxNumHaplotypesInPopulation", shortName="maxNumHaplotypesInPopulation", doc="Maximum number of haplotypes to consider for your population. This number will probably need to be increased when calling organisms with high heterozygosity.", required = false) + @Argument(fullName="maxNumHaplotypesInPopulation", shortName="maxNumHaplotypesInPopulation", doc="Maximum number of haplotypes to consider for your population", required = false) protected int maxNumHaplotypesInPopulation = 128; @Advanced - @Argument(fullName="mergeVariantsViaLD", shortName="mergeVariantsViaLD", doc="If specified, we will merge variants together into block substitutions that are in strong local LD", required = false) + @Argument(fullName="mergeVariantsViaLD", shortName="mergeVariantsViaLD", doc="Merge variants together into block substitutions if they are in strong local LD", required = false) protected boolean mergeVariantsViaLD = false; + /** + * As of GATK 3.3, HaplotypeCaller outputs physical information (see release notes and documentation for details). This argument disables that behavior. + */ @Advanced - @Argument(fullName="doNotRunPhysicalPhasing", shortName="doNotRunPhysicalPhasing", doc="If specified, we will not try to add physical (read-based) phasing information", required = false) + @Argument(fullName="doNotRunPhysicalPhasing", shortName="doNotRunPhysicalPhasing", doc="Don't try to add physical (read-based) phasing information", required = false) protected boolean doNotRunPhysicalPhasing = false; public static final String HAPLOTYPE_CALLER_PHASING_ID_KEY = "PID"; @@ -543,45 +562,60 @@ public class HaplotypeCaller extends ActiveRegionWalker, In @Argument(fullName="keepRG", shortName="keepRG", doc="Only use read from this read group when making calls (but use all reads to build the assembly)", required = false) protected String keepRG = null; + /** + * This argument is intended for benchmarking and scalability testing. + */ @Hidden - @Argument(fullName="justDetermineActiveRegions", shortName="justDetermineActiveRegions", doc = "If specified, the HC won't actually do any assembly or calling, it'll just run the upfront active region determination code. Useful for benchmarking and scalability testing", required=false) + @Argument(fullName="justDetermineActiveRegions", shortName="justDetermineActiveRegions", doc = "Just determine ActiveRegions, don't perform assembly or calling", required=false) protected boolean justDetermineActiveRegions = false; + /** + * This argument is intended for benchmarking and scalability testing. + */ @Hidden - @Argument(fullName="dontGenotype", shortName="dontGenotype", doc = "If specified, the HC will do any assembly but won't do calling. Useful for benchmarking and scalability testing", required=false) + @Argument(fullName="dontGenotype", shortName="dontGenotype", doc = "Perform assembly but do not genotype variants", required=false) protected boolean dontGenotype = false; + /** + * Enabling this argument may cause fundamental problems with the assembly graph itself. + */ @Hidden - @Argument(fullName="errorCorrectKmers", shortName="errorCorrectKmers", doc = "Use an exploratory algorithm to error correct the kmers used during assembly. May cause fundamental problems with the assembly graph itself", required=false) + @Argument(fullName="errorCorrectKmers", shortName="errorCorrectKmers", doc = "Use an exploratory algorithm to error correct the kmers used during assembly", required=false) protected boolean errorCorrectKmers = false; @Hidden - @Argument(fullName="debugGraphTransformations", shortName="debugGraphTransformations", doc="If specified, we will write DOT formatted graph files out of the assembler for only this graph size", required = false) + @Argument(fullName="debugGraphTransformations", shortName="debugGraphTransformations", doc="Write DOT formatted graph files out of the assembler for only this graph size", required = false) protected boolean debugGraphTransformations = false; @Advanced - @Argument(fullName="dontUseSoftClippedBases", shortName="dontUseSoftClippedBases", doc="If specified, we will not analyze soft clipped bases in the reads", required = false) + @Argument(fullName="dontUseSoftClippedBases", shortName="dontUseSoftClippedBases", doc="Do not analyze soft clipped bases in the reads", required = false) protected boolean dontUseSoftClippedBases = false; @Hidden - @Argument(fullName="captureAssemblyFailureBAM", shortName="captureAssemblyFailureBAM", doc="If specified, we will write a BAM called assemblyFailure.bam capturing all of the reads that were in the active region when the assembler failed for any reason", required = false) + @Argument(fullName="captureAssemblyFailureBAM", shortName="captureAssemblyFailureBAM", doc="Write a BAM called assemblyFailure.bam capturing all of the reads that were in the active region when the assembler failed for any reason", required = false) protected boolean captureAssemblyFailureBAM = false; @Hidden - @Argument(fullName="allowCyclesInKmerGraphToGeneratePaths", shortName="allowCyclesInKmerGraphToGeneratePaths", doc="If specified, we will allow cycles in the kmer graphs to generate paths with multiple copies of the path sequenece rather than just the shortest paths", required = false) + @Argument(fullName="allowCyclesInKmerGraphToGeneratePaths", shortName="allowCyclesInKmerGraphToGeneratePaths", doc="Allow cycles in the kmer graphs to generate paths with multiple copies of the path sequenece rather than just the shortest paths", required = false) protected boolean allowCyclesInKmerGraphToGeneratePaths = false; @Hidden - @Argument(fullName="noFpga", shortName="noFpga", doc="If provided, disables the use of the FPGA HMM implementation", required = false) + @Argument(fullName="noFpga", shortName="noFpga", doc="Disable the use of the FPGA HMM implementation", required = false) protected boolean noFpga = false; // Parameters to control read error correction + /** + * Enabling this argument may cause fundamental problems with the assembly graph itself. + */ @Hidden - @Argument(fullName="errorCorrectReads", shortName="errorCorrectReads", doc = "Use an exploratory algorithm to error correct the kmers used during assembly. May cause fundamental problems with the assembly graph itself", required=false) + @Argument(fullName="errorCorrectReads", shortName="errorCorrectReads", doc = "Use an exploratory algorithm to error correct the kmers used during assembly", required=false) protected boolean errorCorrectReads = false; + /** + * Enabling this argument may cause fundamental problems with the assembly graph itself. + */ @Hidden - @Argument(fullName="kmerLengthForReadErrorCorrection", shortName="kmerLengthForReadErrorCorrection", doc = "Use an exploratory algorithm to error correct the kmers used during assembly. May cause fundamental problems with the assembly graph itself", required=false) + @Argument(fullName="kmerLengthForReadErrorCorrection", shortName="kmerLengthForReadErrorCorrection", doc = "Use an exploratory algorithm to error correct the kmers used during assembly", required=false) protected int kmerLengthForReadErrorCorrection = 25; @Hidden @@ -730,7 +764,7 @@ public class HaplotypeCaller extends ActiveRegionWalker, In SCAC.setSampleContamination(AlleleBiasedDownsamplingUtils.loadContaminationFile(SCAC.CONTAMINATION_FRACTION_FILE, SCAC.CONTAMINATION_FRACTION, sampleSet, logger)); if( SCAC.genotypingOutputMode == GenotypingOutputMode.GENOTYPE_GIVEN_ALLELES && consensusMode ) - throw new UserException("HaplotypeCaller cannot be run in both GENOTYPE_GIVEN_ALLELES mode and in consensus mode. Please choose one or the other."); + throw new UserException("HaplotypeCaller cannot be run in both GENOTYPE_GIVEN_ALLELES mode and in consensus mode at the same time. Please choose one or the other."); final GenomeLocParser genomeLocParser = toolkit.getGenomeLocParser(); @@ -828,7 +862,7 @@ public class HaplotypeCaller extends ActiveRegionWalker, In referenceConfidenceModel = new ReferenceConfidenceModel(getToolkit().getGenomeLocParser(), samples, getToolkit().getSAMFileHeader(), indelSizeToEliminateInRefModel); if ( emitReferenceConfidence() ) { if ( samples.sampleCount() != 1 ) - throw new UserException.BadArgumentValue("emitRefConfidence", "Can only be used in single sample mode currently. Use the sample_name argument"); + throw new UserException.BadArgumentValue("emitRefConfidence", "Can only be used in single sample mode currently. Use the sample_name argument to run on a single sample out of a multi-sample BAM file."); headerInfo.addAll(referenceConfidenceModel.getVCFHeaderLines()); if ( SCAC.emitReferenceConfidence == ReferenceConfidenceMode.GVCF ) { // a kluge to enforce the use of this indexing strategy @@ -862,7 +896,7 @@ public class HaplotypeCaller extends ActiveRegionWalker, In default: //Note: we do not include in the error message list as it is of no grand public interest. throw new UserException("Unsupported likelihood calculation engine '" + likelihoodCalculationEngine + - "'. Please use one of the following instead: 'PairHMM' and 'GraphBased'."); + "'. Please use one of the following instead: 'PairHMM' or 'GraphBased'."); } } diff --git a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java index d2881f131..c5d0073f2 100644 --- a/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java +++ b/protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCallerArgumentCollection.java @@ -63,11 +63,11 @@ import org.broadinstitute.gatk.utils.commandline.Argument; public class HaplotypeCallerArgumentCollection extends StandardCallerArgumentCollection { @Advanced - @Argument(fullName="debug", shortName="debug", doc="If specified, print out very verbose debug information about each triggering active region", required = false) + @Argument(fullName="debug", shortName="debug", doc="Print out very verbose debug information about each triggering active region", required = false) protected boolean DEBUG; @Advanced - @Argument(fullName="useFilteredReadsForAnnotations", shortName="useFilteredReadsForAnnotations", doc = "If specified, use the contamination-filtered read maps for the purposes of annotating variants", required=false) + @Argument(fullName="useFilteredReadsForAnnotations", shortName="useFilteredReadsForAnnotations", doc = "Use the contamination-filtered read maps for the purposes of annotating variants", required=false) protected boolean USE_FILTERED_READ_MAP_FOR_ANNOTATIONS = false; /** @@ -77,7 +77,7 @@ public class HaplotypeCallerArgumentCollection extends StandardCallerArgumentCol * This requirement is a temporary workaround for an issue with index compression. */ @Advanced - @Argument(fullName="emitRefConfidence", shortName="ERC", doc="Mode for emitting experimental reference confidence scores", required = false) + @Argument(fullName="emitRefConfidence", shortName="ERC", doc="Mode for emitting reference confidence scores", required = false) protected ReferenceConfidenceMode emitReferenceConfidence = ReferenceConfidenceMode.NONE; @Override diff --git a/public/gatk-tools-public/src/main/java/org/broadinstitute/gatk/tools/walkers/variantutils/SelectVariants.java b/public/gatk-tools-public/src/main/java/org/broadinstitute/gatk/tools/walkers/variantutils/SelectVariants.java index cfe22879b..db9d082b7 100644 --- a/public/gatk-tools-public/src/main/java/org/broadinstitute/gatk/tools/walkers/variantutils/SelectVariants.java +++ b/public/gatk-tools-public/src/main/java/org/broadinstitute/gatk/tools/walkers/variantutils/SelectVariants.java @@ -147,7 +147,7 @@ import java.util.*; * -R ref.fasta \ * -T SelectVariants \ * --variant input.vcf \ - * -bed family.ped \ + * -ped family.ped \ * -mvq 50 \ * -o violations.vcf *