Hidden mode in ValidationAmplicons to support ILMN output format (same as Sequenom, with just shuffled columns)
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3b5a7c34d7
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858acf8616
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@ -134,6 +134,10 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
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@Argument(doc="Use Sequenom output format instead of regular FASTA",fullName="sqnm",required=false)
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boolean sequenomOutput = false;
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@Hidden
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@Argument(doc="Use ILMN output format instead of regular FASTA",fullName="ilmn",required=false)
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boolean ilmnOutput = false;
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GenomeLoc prevInterval;
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GenomeLoc allelePos;
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@ -141,6 +145,7 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
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StringBuilder sequence;
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StringBuilder rawSequence;
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boolean sequenceInvalid;
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boolean isSiteSNP;
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List<String> invReason;
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int indelCounter;
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@ -169,6 +174,9 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
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header.setSequenceDictionary(referenceDictionary);
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header.setSortOrder(SAMFileHeader.SortOrder.unsorted);
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}
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if (ilmnOutput)
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out.println("Locus_Name,Target_Type,Sequence,Chromosome,Coordinate,Genome_Build_Version,Source,Source_Version,Sequence_Orientation,Plus_Minus,Force_Infinium_I");
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}
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public Integer reduceInit() {
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@ -234,6 +242,8 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
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}
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rawSequence.append(Character.toUpperCase((char) ref.getBase()));
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} else if ( validate != null ) {
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// record variant type in case it's needed in output format
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isSiteSNP = (validate.isSNP());
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// doesn't matter if there's a mask here too -- this is what we want to validate
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if ( validate.isFiltered() ) {
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logger.warn("You are attempting to validate a filtered site. Why are you attempting to validate a filtered site? You should not be attempting to validate a filtered site.");
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@ -496,13 +506,19 @@ public class ValidationAmplicons extends RodWalker<Integer,Integer> {
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if (!onlyOutputValidAmplicons || !sequenceInvalid) {
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String seqIdentity = sequence.toString().replace('n', 'N').replace('i', 'I').replace('d', 'D');
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if (!sequenomOutput)
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out.printf(">%s %s %s%n%s%n", allelePos != null ? allelePos.toString() : "multiple", valid, probeName, seqIdentity);
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else {
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if (sequenomOutput) {
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seqIdentity = seqIdentity.replace("*",""); // identifier < 20 letters long, no * in ref allele, one line per record
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probeName = probeName.replace("amplicon_","a");
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out.printf("%s_%s %s%n", allelePos != null ? allelePos.toString() : "multiple", probeName, seqIdentity);
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}
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else if (ilmnOutput) {
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String type = isSiteSNP?"SNP":"INDEL";
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seqIdentity = seqIdentity.replace("*",""); // no * in ref allele
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out.printf("%s,%s,%s,%s,%d,37,1000G,ExomePhase1,Forward,Plus,FALSE%n",probeName,type,seqIdentity,allelePos.getContig(),allelePos.getStart());
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}
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else{
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out.printf(">%s %s %s%n%s%n", allelePos != null ? allelePos.toString() : "multiple", valid, probeName, seqIdentity);
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}
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}
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}
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}
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