Added docs to RTC
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@ -83,7 +83,9 @@ import java.util.*;
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* <li>Running the realigner over those intervals (IndelRealigner)</li>
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* </ol>
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* <p>
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* An important note: because reads produced from the 454 technology inherently contain false indels, the realigner will not currently work with them
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* An important note: the input bam(s), reference, and known indel file(s) should be the same ones used for the RealignerTargetCreator step.
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*
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* Another important note: because reads produced from the 454 technology inherently contain false indels, the realigner will not currently work with them
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* (or with reads from similar technologies).
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*
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* <h2>Input</h2>
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@ -52,7 +52,51 @@ import java.util.Collections;
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import java.util.List;
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/**
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* Emits intervals for the Local Indel Realigner to target for cleaning. Ignores 454 reads, MQ0 reads, and reads with consecutive indel operators in the CIGAR string.
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* Emits intervals for the Local Indel Realigner to target for cleaning.
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*
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* <p>
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* The local realignment tool is designed to consume one or more BAM files and to locally realign reads such that the number of mismatching bases
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* is minimized across all the reads. In general, a large percent of regions requiring local realignment are due to the presence of an insertion
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* or deletion (indels) in the individualÕs genome with respect to the reference genome. Such alignment artifacts result in many bases mismatching
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* the reference near the misalignment, which are easily mistaken as SNPs. Moreover, since read mapping algorithms operate on each read independently,
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* it is impossible to place reads on the reference genome such at mismatches are minimized across all reads. Consequently, even when some reads are
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* correctly mapped with indels, reads covering the indel near just the start or end of the read are often incorrectly mapped with respect the true indel,
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* also requiring realignment. Local realignment serves to transform regions with misalignments due to indels into clean reads containing a consensus
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* indel suitable for standard variant discovery approaches. Unlike most mappers, this walker uses the full alignment context to determine whether an
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* appropriate alternate reference (i.e. indel) exists. Following local realignment, the GATK tool Unified Genotyper can be used to sensitively and
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* specifically identify indels.
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* <p>
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* <ol>There are 2 steps to the realignment process:
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* <li>Determining (small) suspicious intervals which are likely in need of realignment (RealignerTargetCreator)</li>
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* <li>Running the realigner over those intervals (see the IndelRealigner tool)</li>
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* </ol>
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* <p>
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* An important note: the input bam(s), reference, and known indel file(s) should be the same ones to be used for the IndelRealigner step.
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*
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* Another important note: because reads produced from the 454 technology inherently contain false indels, the realigner will not currently work with them
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* (or with reads from similar technologies). This tool also ignores MQ0 reads and reads with consecutive indel operators in the CIGAR string.
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*
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* <h2>Input</h2>
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* <p>
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* One or more aligned BAM files and optionally one or more lists of known indels.
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* </p>
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*
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* <h2>Output</h2>
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* <p>
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* A list of target intervals to pass to the Indel Realigner.
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* </p>
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*
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* <h2>Examples</h2>
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* <pre>
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* java -Xmx2g -jar GenomeAnalysisTK.jar \
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* -I <input.bam> \
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* -R <ref.fasta> \
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* -T RealignerTargetCreator \
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* -o <forIndelRealigner.intervals> \
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* [--known /path/to/indels.vcf]
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* </pre>
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*
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* @author ebanks
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*/
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@ReadFilters({Platform454Filter.class, MappingQualityZeroReadFilter.class, BadCigarFilter.class})
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@Reference(window=@Window(start=-1,stop=50))
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@ -61,29 +105,41 @@ import java.util.List;
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@BAQMode(ApplicationTime = BAQ.ApplicationTime.FORBIDDEN)
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public class RealignerTargetCreator extends RodWalker<RealignerTargetCreator.Event, RealignerTargetCreator.Event> {
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/**
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* The target intervals for realignment.
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*/
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@Output
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protected PrintStream out;
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/**
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* Any number of VCF files representing known SNPs and/or indels. Could be e.g. dbSNP and/or official 1000 Genomes indel calls.
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* SNPs in these files will be ignored unless the --mismatchFraction argument is used.
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*/
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@Input(fullName="known", shortName = "known", doc="Input VCF file with known indels", required=false)
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public List<RodBinding<VariantContext>> known = Collections.emptyList();
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// mismatch/entropy/SNP arguments
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/**
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* Any two SNP calls and/or high entropy positions are considered clustered when they occur no more than this many basepairs apart.
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*/
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@Argument(fullName="windowSize", shortName="window", doc="window size for calculating entropy or SNP clusters", required=false)
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protected int windowSize = 10;
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@Argument(fullName="mismatchFraction", shortName="mismatch", doc="fraction of base qualities needing to mismatch for a position to have high entropy; to disable set to <= 0 or > 1", required=false)
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/**
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* To disable this behavior, set this value to <= 0 or > 1. This feature is really only necessary when using an ungapped aligner
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* (e.g. MAQ in the case of single-end read data) and should be used in conjunction with '--model USE_SW' in the IndelRealigner.
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*/
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@Argument(fullName="mismatchFraction", shortName="mismatch", doc="fraction of base qualities needing to mismatch for a position to have high entropy", required=false)
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protected double mismatchThreshold = 0.0;
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@Argument(fullName="minReadsAtLocus", shortName="minReads", doc="minimum reads at a locus to enable using the entropy calculation", required=false)
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protected int minReadsAtLocus = 4;
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// interval merging arguments
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/**
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* Because the realignment algorithm is N^2, allowing too large an interval might take too long to completely realign.
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*/
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@Argument(fullName="maxIntervalSize", shortName="maxInterval", doc="maximum interval size", required=false)
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protected int maxIntervalSize = 500;
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@Deprecated
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@Argument(fullName="realignReadsWithBadMates", doc="This argument is no longer used.", required=false)
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protected boolean DEPRECATED_REALIGN_MATES = false;
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@Override
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public boolean generateExtendedEvents() { return true; }
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@ -96,8 +96,8 @@ public class GATKDoclet {
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//logger.debug("Considering " + doc);
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Class clazz = getClassForClassDoc(doc);
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if ( clazz != null && clazz.getName().equals("org.broadinstitute.sting.gatk.walkers.annotator.AlleleBalance"))
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logger.debug("foo");
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//if ( clazz != null && clazz.getName().equals("org.broadinstitute.sting.gatk.walkers.annotator.AlleleBalance"))
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// logger.debug("foo");
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DocumentedGATKFeature feature = getFeatureForClassDoc(doc);
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DocumentedGATKFeatureHandler handler = createHandler(doc, feature);
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