/* * Copyright (c) 2012 The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation * files (the "Software"), to deal in the Software without * restriction, including without limitation the rights to use, * copy, modify, merge, publish, distribute, sublicense, and/or sell * copies of the Software, and to permit persons to whom the * Software is furnished to do so, subject to the following * conditions: * * The above copyright notice and this permission notice shall be * included in all copies or substantial portions of the Software. * * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR * THE USE OR OTHER DEALINGS IN THE SOFTWARE. */ package htsjdk.variant.vcf; import htsjdk.tribble.TribbleException; import htsjdk.tribble.readers.AsciiLineReader; import htsjdk.tribble.readers.AsciiLineReaderIterator; import htsjdk.tribble.readers.LineIteratorImpl; import htsjdk.tribble.readers.LineReaderUtil; import htsjdk.tribble.readers.PositionalBufferedStream; import htsjdk.variant.VariantBaseTest; import htsjdk.variant.variantcontext.VariantContext; import org.testng.Assert; import org.testng.annotations.Test; import java.io.File; import java.io.FileInputStream; import java.io.FileNotFoundException; import java.io.IOException; import java.io.InputStream; import java.io.PrintWriter; import java.io.StringBufferInputStream; import java.math.BigInteger; import java.security.MessageDigest; import java.security.NoSuchAlgorithmException; import java.util.ArrayList; import java.util.Arrays; import java.util.List; /** * Created by IntelliJ IDEA. * User: aaron * Date: Jun 30, 2010 * Time: 3:32:08 PM * To change this template use File | Settings | File Templates. */ public class VCFHeaderUnitTest extends VariantBaseTest { private VCFHeader createHeader(String headerStr) { VCFCodec codec = new VCFCodec(); VCFHeader header = (VCFHeader) codec.readActualHeader(new LineIteratorImpl(LineReaderUtil.fromBufferedStream(new PositionalBufferedStream(new StringBufferInputStream(headerStr)), LineReaderUtil.LineReaderOption.SYNCHRONOUS))); Assert.assertEquals(header.getMetaDataInInputOrder().size(), VCF4headerStringCount); return header; } @Test public void testVCF4ToVCF4() { VCFHeader header = createHeader(VCF4headerStrings); checkMD5ofHeaderFile(header, "f05a57053a0c6a5bac15dba566f7f7ff"); } @Test public void testVCF4ToVCF4_alternate() { VCFHeader header = createHeader(VCF4headerStrings_with_negativeOne); checkMD5ofHeaderFile(header, "b1d71cc94261053131f8d239d65a8c9f"); } @Test public void testVCFHeaderSampleRenamingSingleSampleVCF() throws Exception { final VCFCodec codec = new VCFCodec(); codec.setRemappedSampleName("FOOSAMPLE"); final AsciiLineReaderIterator vcfIterator = new AsciiLineReaderIterator(new AsciiLineReader(new FileInputStream(variantTestDataRoot + "HiSeq.10000.vcf"))); final VCFHeader header = (VCFHeader)codec.readHeader(vcfIterator).getHeaderValue(); Assert.assertEquals(header.getNGenotypeSamples(), 1, "Wrong number of samples in remapped header"); Assert.assertEquals(header.getGenotypeSamples().get(0), "FOOSAMPLE", "Sample name in remapped header has incorrect value"); int recordCount = 0; while ( vcfIterator.hasNext() && recordCount < 10) { recordCount++; final VariantContext vcfRecord = codec.decode(vcfIterator.next()); Assert.assertEquals(vcfRecord.getSampleNames().size(), 1, "Wrong number of samples in vcf record after remapping"); Assert.assertEquals(vcfRecord.getSampleNames().iterator().next(), "FOOSAMPLE", "Wrong sample in vcf record after remapping"); } } @Test public void testVCFHeaderDictionaryMerging() { VCFHeader headerOne = new VCFFileReader(new File(variantTestDataRoot + "dbsnp_135.b37.1000.vcf"), false).getFileHeader(); VCFHeader headerTwo = new VCFHeader(headerOne); // deep copy final List<String> sampleList = new ArrayList<String>(); sampleList.addAll(headerOne.getSampleNamesInOrder()); // Check that the two dictionaries start out the same headerOne.getSequenceDictionary().assertSameDictionary(headerTwo.getSequenceDictionary()); // Run the merge command final VCFHeader mergedHeader = new VCFHeader(VCFUtils.smartMergeHeaders(Arrays.asList(headerOne, headerTwo), false), sampleList); // Check that the mergedHeader's sequence dictionary matches the first two mergedHeader.getSequenceDictionary().assertSameDictionary(headerOne.getSequenceDictionary()); } @Test(expectedExceptions = TribbleException.class) public void testVCFHeaderSampleRenamingMultiSampleVCF() throws Exception { final VCFCodec codec = new VCFCodec(); codec.setRemappedSampleName("FOOSAMPLE"); final AsciiLineReaderIterator vcfIterator = new AsciiLineReaderIterator(new AsciiLineReader(new FileInputStream(variantTestDataRoot + "ex2.vcf"))); final VCFHeader header = (VCFHeader)codec.readHeader(vcfIterator).getHeaderValue(); } @Test(expectedExceptions = TribbleException.class) public void testVCFHeaderSampleRenamingSitesOnlyVCF() throws Exception { final VCFCodec codec = new VCFCodec(); codec.setRemappedSampleName("FOOSAMPLE"); final AsciiLineReaderIterator vcfIterator = new AsciiLineReaderIterator(new AsciiLineReader(new FileInputStream(variantTestDataRoot + "dbsnp_135.b37.1000.vcf"))); final VCFHeader header = (VCFHeader)codec.readHeader(vcfIterator).getHeaderValue(); } /** * a little utility function for all tests to md5sum a file * Shameless taken from: * * http://www.javalobby.org/java/forums/t84420.html * * @param file the file * @return a string */ private static String md5SumFile(File file) { MessageDigest digest; try { digest = MessageDigest.getInstance("MD5"); } catch (NoSuchAlgorithmException e) { throw new RuntimeException("Unable to find MD5 digest"); } InputStream is; try { is = new FileInputStream(file); } catch (FileNotFoundException e) { throw new RuntimeException("Unable to open file " + file); } byte[] buffer = new byte[8192]; int read; try { while ((read = is.read(buffer)) > 0) { digest.update(buffer, 0, read); } byte[] md5sum = digest.digest(); BigInteger bigInt = new BigInteger(1, md5sum); return bigInt.toString(16); } catch (IOException e) { throw new RuntimeException("Unable to process file for MD5", e); } finally { try { is.close(); } catch (IOException e) { throw new RuntimeException("Unable to close input stream for MD5 calculation", e); } } } private void checkMD5ofHeaderFile(VCFHeader header, String md5sum) { File myTempFile = null; PrintWriter pw = null; try { myTempFile = File.createTempFile("VCFHeader","vcf"); myTempFile.deleteOnExit(); pw = new PrintWriter(myTempFile); } catch (IOException e) { Assert.fail("Unable to make a temp file!"); } for (VCFHeaderLine line : header.getMetaDataInSortedOrder()) pw.println(line); pw.close(); Assert.assertEquals(md5SumFile(myTempFile), md5sum); } public static int VCF4headerStringCount = 16; public static String VCF4headerStrings = "##fileformat=VCFv4.0\n"+ "##filedate=2010-06-21\n"+ "##reference=NCBI36\n"+ "##INFO=<ID=GC, Number=0, Type=Flag, Description=\"Overlap with Gencode CCDS coding sequence\">\n"+ "##INFO=<ID=DP, Number=1, Type=Integer, Description=\"Total number of reads in haplotype window\">\n"+ "##INFO=<ID=AF, Number=A, Type=Float, Description=\"Dindel estimated population allele frequency\">\n"+ "##INFO=<ID=CA, Number=1, Type=String, Description=\"Pilot 1 callability mask\">\n"+ "##INFO=<ID=HP, Number=1, Type=Integer, Description=\"Reference homopolymer tract length\">\n"+ "##INFO=<ID=NS, Number=1, Type=Integer, Description=\"Number of samples with data\">\n"+ "##INFO=<ID=DB, Number=0, Type=Flag, Description=\"dbSNP membership build 129 - type match and indel sequence length match within 25 bp\">\n"+ "##INFO=<ID=NR, Number=1, Type=Integer, Description=\"Number of reads covering non-ref variant on reverse strand\">\n"+ "##INFO=<ID=NF, Number=1, Type=Integer, Description=\"Number of reads covering non-ref variant on forward strand\">\n"+ "##FILTER=<ID=NoQCALL, Description=\"Variant called by Dindel but not confirmed by QCALL\">\n"+ "##FORMAT=<ID=GT, Number=1, Type=String, Description=\"Genotype\">\n"+ "##FORMAT=<ID=HQ, Number=2, Type=Integer, Description=\"Haplotype quality\">\n"+ "##FORMAT=<ID=GQ, Number=1, Type=Integer, Description=\"Genotype quality\">\n"+ "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\n"; public static String VCF4headerStrings_with_negativeOne = "##fileformat=VCFv4.0\n"+ "##filedate=2010-06-21\n"+ "##reference=NCBI36\n"+ "##INFO=<ID=GC, Number=0, Type=Flag, Description=\"Overlap with Gencode CCDS coding sequence\">\n"+ "##INFO=<ID=YY, Number=., Type=Integer, Description=\"Some weird value that has lots of parameters\">\n"+ "##INFO=<ID=AF, Number=A, Type=Float, Description=\"Dindel estimated population allele frequency\">\n"+ "##INFO=<ID=CA, Number=1, Type=String, Description=\"Pilot 1 callability mask\">\n"+ "##INFO=<ID=HP, Number=1, Type=Integer, Description=\"Reference homopolymer tract length\">\n"+ "##INFO=<ID=NS, Number=1, Type=Integer, Description=\"Number of samples with data\">\n"+ "##INFO=<ID=DB, Number=0, Type=Flag, Description=\"dbSNP membership build 129 - type match and indel sequence length match within 25 bp\">\n"+ "##INFO=<ID=NR, Number=1, Type=Integer, Description=\"Number of reads covering non-ref variant on reverse strand\">\n"+ "##INFO=<ID=NF, Number=1, Type=Integer, Description=\"Number of reads covering non-ref variant on forward strand\">\n"+ "##FILTER=<ID=NoQCALL, Description=\"Variant called by Dindel but not confirmed by QCALL\">\n"+ "##FORMAT=<ID=GT, Number=1, Type=String, Description=\"Genotype\">\n"+ "##FORMAT=<ID=HQ, Number=2, Type=Integer, Description=\"Haplotype quality\">\n"+ "##FORMAT=<ID=TT, Number=., Type=Integer, Description=\"Lots of TTs\">\n"+ "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\n"; }