diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java
index e5ad3106d..8bba8eac2 100644
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java
@@ -68,26 +68,59 @@ import org.broadinstitute.sting.utils.variantcontext.VariantContext;
import java.io.*;
import java.util.*;
+
/**
+ * Tool for calling indels in Tumor-Normal paired sample mode; this tool supports single-sample mode as well,
+ * but this latter functionality is now superceded by UnifiedGenotyper.
+ *
+ *
* This is a simple, counts-and-cutoffs based tool for calling indels from aligned (preferrably MSA cleaned) sequencing
- * data. Two output formats supported are: BED format (minimal output, required), and extended output that includes read
- * and mismtach statistics around the calls (tuned on with --verbose). The calls can be performed from a single/pooled sample,
- * or from a matched pair of samples (with --somatic option). In the latter case, two input bam files must be specified,
- * the order is important: indels are called from the second sample ("Tumor") and additionally annotated as germline
- * if even a weak evidence for the same indel, not necessarily a confident call, exists in the first sample ("Normal"), or as somatic
- * if first bam has coverage at the site but no indication for an indel. In the --somatic mode, BED output contains
- * only somatic calls, while --verbose output contains all calls annotated with GERMLINE/SOMATIC keywords.
+ * data. Supported output formats are: BED format, extended verbose output (tab separated), and VCF. The latter two outputs
+ * include additional statistics such as mismtaches and base qualitites around the calls, read strandness (how many
+ * forward/reverse reads support ref and indel alleles) etc. It is highly recommended to use these additional
+ * statistics to perform post-filtering of the calls as the tool is tuned for sensitivity (in other words it will
+ * attempt to "call" anything remotely reasonable based only on read counts and will generate all the additional
+ * metrics for the post-processing tools to make the final decision). The calls are performed by default
+ * from a matched tumor-normal pair of samples. In this case, two (sets of) input bam files must be specified using tagged -I
+ * command line arguments: normal and tumor bam(s) must be passed with -I:normal and -I:tumor arguments,
+ * respectively. Indels are called from the tumor sample and annotated as germline
+ * if even a weak evidence for the same indel, not necessarily a confident call, exists in the normal sample, or as somatic
+ * if normal sample has coverage at the site but no indication for an indel. Note that strictly speaking the calling
+ * is not even attempted in normal sample: if there is an indel in normal that is not detected/does not pass a threshold
+ * in tumor sample, it will not be reported.
*
- * If any of the general usage of this tool or any of the command-line arguments for this tool are not clear to you,
- * please email asivache at broadinstitute dot org and he will gladly explain everything in more detail.
+ * To make indel calls and associated metrics for a single sample, this tool can be run with --unpaired flag (input
+ * bam tagging is not required in this case, and tags are completely ignored if still used: all input bams will be merged
+ * on the fly and assumed to represent a single sample - this tool does not check for sample id in the read groups).
*
+ *
Input
+ *
+ * Tumor and normal bam files (or single sample bam file(s) in --unpaired mode).
+ *
+ *
+ * Output
+ *
+ * Indel calls with associated metrics.
+ *
+ *
+ * Examples
+ *
+ * java -Xmx2g -jar GenomeAnalysisTK.jar \
+ * -R ref.fasta \
+ * -T SomaticIndelDetector \
+ * -o indels.vcf \
+ * -verbose indels.txt
+ * -I:normal normal.bam \
+ * -I:tumor tumor.bam
+ *
*
*/
+
@ReadFilters({Platform454Filter.class, MappingQualityZeroFilter.class, PlatformUnitFilter.class})
public class SomaticIndelDetectorWalker extends ReadWalker {
// @Output
// PrintStream out;
- @Output(doc="File to which variants should be written",required=true)
+ @Output(doc="File to write variants (indels) in VCF format",required=true)
protected VCFWriter vcf_writer = null;
@Argument(fullName="outputFile", shortName="O", doc="output file name (BED format). DEPRECATED> Use --bed", required=true)
@@ -102,68 +135,80 @@ public class SomaticIndelDetectorWalker extends ReadWalker {
@Hidden
@Argument(fullName = "genotype_intervals", shortName = "genotype",
- doc = "Calls will be made at each position within the specified interval(s), whether there is an indel or it's the ref", required = false)
+ doc = "Calls will be made at each position within the specified interval(s), whether there is an indel or not", required = false)
public String genotypeIntervalsFile = null;
@Hidden
@Argument(fullName="genotypeIntervalsAreNotSorted", shortName="giNotSorted", required=false,
- doc="This tool assumes that the genotyping interval list (--genotype_intervals) is sorted; "+
- "if the list turns out to be unsorted, it will throw an exception. "+
- "Use this argument when your interval list is not sorted to instruct the IndelGenotyper "+
- "to sort and keep it in memory (increases memory usage!).")
+ doc="This tool assumes that the genotyping interval list (--genotype_intervals) is sorted; "+
+ "if the list turns out to be unsorted, it will throw an exception. "+
+ "Use this argument when your interval list is not sorted to instruct the IndelGenotyper "+
+ "to sort and keep it in memory (increases memory usage!).")
protected boolean GENOTYPE_NOT_SORTED = false;
@Hidden
- @Argument(fullName="unpaired", shortName="unpaired",
- doc="Perform unpaired calls (no somatic status detection)", required=false)
+ @Argument(fullName="unpaired", shortName="unpaired",
+ doc="Perform unpaired calls (no somatic status detection)", required=false)
boolean call_unpaired = false;
- boolean call_somatic ;
+ boolean call_somatic ;
- @Argument(fullName="verboseOutput", shortName="verbose",
- doc="Verbose output file in text format", required=false)
- java.io.File verboseOutput = null;
+ @Argument(fullName="verboseOutput", shortName="verbose",
+ doc="Verbose output file in text format", required=false)
+ java.io.File verboseOutput = null;
@Argument(fullName="bedOutput", shortName="bed",
- doc="Lightweight bed output file (only positions and events, no stats/annotations)", required=false)
+ doc="Lightweight bed output file (only positions and events, no stats/annotations)", required=false)
java.io.File bedOutput = null;
- @Argument(fullName="minCoverage", shortName="minCoverage",
- doc="indel calls will be made only at sites with coverage of minCoverage or more reads; with --somatic this value is applied to tumor sample", required=false)
- int minCoverage = 6;
+ @Argument(fullName="minCoverage", shortName="minCoverage",
+ doc="indel calls will be made only at sites with tumor coverage of minCoverage or more reads; "+
+ "with --unpaired (single sample) option, this value is used for minimum sample coverage", required=false)
+ int minCoverage = 6;
- @Argument(fullName="minNormalCoverage", shortName="minNormalCoverage",
- doc="used only with --somatic; normal sample must have at least minNormalCoverage or more reads at the site to call germline/somatic indel, otherwise the indel (in tumor) is ignored", required=false)
- int minNormalCoverage = 4;
+ @Argument(fullName="minNormalCoverage", shortName="minNormalCoverage",
+ doc="used only in default (somatic) mode; normal sample must have at least minNormalCoverage "+
+ "or more reads at the site to call germline/somatic indel, otherwise the indel (in tumor) is ignored", required=false)
+ int minNormalCoverage = 4;
- @Argument(fullName="minFraction", shortName="minFraction",
- doc="Minimum fraction of reads with CONSENSUS indel at a site, out of all reads covering the site, required for making a call"+
- " (fraction of non-consensus indels at the site is not considered here, see minConsensusFraction)", required=false)
- double minFraction = 0.3;
+ @Argument(fullName="minFraction", shortName="minFraction",
+ doc="Minimum fraction of reads with CONSENSUS indel at a site, out of all reads covering the site, required for making a call"+
+ " (fraction of non-consensus indels at the site is not considered here, see minConsensusFraction)", required=false)
+ double minFraction = 0.3;
- @Argument(fullName="minConsensusFraction", shortName="minConsensusFraction",
- doc="Indel call is made only if fraction of CONSENSUS indel observations at a site wrt all indel observations at the site exceeds this threshold", required=false)
- double minConsensusFraction = 0.7;
+ @Argument(fullName="minConsensusFraction", shortName="minConsensusFraction",
+ doc="Indel call is made only if fraction of CONSENSUS indel observations at a site wrt "+
+ "all indel observations at the site exceeds this threshold", required=false)
+ double minConsensusFraction = 0.7;
- @Argument(fullName="minIndelCount", shortName="minCnt",
- doc="Minimum count of reads supporting consensus indel required for making the call. "+
- " This filter supercedes minFraction, i.e. indels with acceptable minFraction at low coverage "+
- "(minIndelCount not met) will not pass.", required=false)
- int minIndelCount = 0;
+ @Argument(fullName="minIndelCount", shortName="minCnt",
+ doc="Minimum count of reads supporting consensus indel required for making the call. "+
+ " This filter supercedes minFraction, i.e. indels with acceptable minFraction at low coverage "+
+ "(minIndelCount not met) will not pass.", required=false)
+ int minIndelCount = 0;
- @Argument(fullName="refseq", shortName="refseq",
- doc="Name of RefSeq transcript annotation file. If specified, indels will be annotated with GENOMIC/UTR/INTRON/CODING and with the gene name", required=false)
- String RefseqFileName = null;
+ @Argument(fullName="refseq", shortName="refseq",
+ doc="Name of RefSeq transcript annotation file. If specified, indels will be annotated with "+
+ "GENOMIC/UTR/INTRON/CODING and with the gene name", required=false)
+ String RefseqFileName = null;
- @Argument(fullName="blacklistedLanes", shortName="BL",
- doc="Name of lanes (platform units) that should be ignored. Reads coming from these lanes will never be seen "+
- "by this application, so they will not contribute indels to consider and will not be counted.", required=false)
- PlatformUnitFilterHelper dummy;
- @Argument(fullName="indel_debug", shortName="idebug", doc="Detailed printout for debugging, do not turn this on",required=false) Boolean DEBUG = false;
+//@Argument(fullName="blacklistedLanes", shortName="BL",
+// doc="Name of lanes (platform units) that should be ignored. Reads coming from these lanes will never be seen "+
+// "by this application, so they will not contribute indels to consider and will not be counted.", required=false)
+//PlatformUnitFilterHelper dummy;
+
+ @Hidden
+ @Argument(fullName="indel_debug", shortName="idebug", doc="Detailed printout for debugging, do not turn this on",
+ required=false) Boolean DEBUG = false;
@Argument(fullName="window_size", shortName="ws", doc="Size (bp) of the sliding window used for accumulating the coverage. "+
- "May need to be increased to accomodate longer reads or longer deletions.",required=false) int WINDOW_SIZE = 200;
+ "May need to be increased to accomodate longer reads or longer deletions. A read can be fit into the "+
+ "window if its length on the reference (i.e. read length + length of deletion gap(s) if any) is smaller "+
+ "than the window size. Reads that do not fit will be ignored, so long deletions can not be called "+
+ "if window is too small",required=false) int WINDOW_SIZE = 200;
@Argument(fullName="maxNumberOfReads",shortName="mnr",doc="Maximum number of reads to cache in the window; if number of reads exceeds this number,"+
" the window will be skipped and no calls will be made from it",required=false) int MAX_READ_NUMBER = 10000;
+
+
private WindowContext tumor_context;
private WindowContext normal_context;
private int currentContigIndex = -1;