X-Git-Url: http://source.jalview.org/gitweb/?a=blobdiff_plain;f=test%2Fjalview%2Fio%2Fvcf%2FVCFLoaderTest.java;h=808fe86387a0761068d1273987b8d4ac6f297153;hb=195aaaebc7c27996d1db214494025edfd1505d63;hp=a02cc5a82c587253b55355bf28b1472d695b89a8;hpb=296593216c47a835f462d1d74a40b41e4818f737;p=jalview.git diff --git a/test/jalview/io/vcf/VCFLoaderTest.java b/test/jalview/io/vcf/VCFLoaderTest.java index a02cc5a..808fe86 100644 --- a/test/jalview/io/vcf/VCFLoaderTest.java +++ b/test/jalview/io/vcf/VCFLoaderTest.java @@ -1,6 +1,9 @@ package jalview.io.vcf; +import static jalview.io.gff.SequenceOntologyI.SEQUENCE_VARIANT; import static org.testng.Assert.assertEquals; +import static org.testng.Assert.assertNull; +import static org.testng.Assert.assertSame; import jalview.bin.Cache; import jalview.datamodel.AlignmentI; @@ -9,6 +12,8 @@ import jalview.datamodel.Mapping; import jalview.datamodel.Sequence; import jalview.datamodel.SequenceFeature; import jalview.datamodel.SequenceI; +import jalview.datamodel.features.FeatureAttributes; +import jalview.datamodel.features.FeatureAttributes.Datatype; import jalview.datamodel.features.SequenceFeatures; import jalview.gui.AlignFrame; import jalview.io.DataSourceType; @@ -24,6 +29,7 @@ import java.util.List; import java.util.Map; import org.testng.annotations.BeforeClass; +import org.testng.annotations.BeforeTest; import org.testng.annotations.Test; public class VCFLoaderTest @@ -56,17 +62,23 @@ public class VCFLoaderTest + ">transcript4/1-18\n-----TGG-GGACGAGAGTGTGA-A\n"; private static final String[] VCF = { "##fileformat=VCFv4.2", + // fields other than AF are ignored when parsing as they have no INFO definition "##INFO=", + "##INFO= geneFeatures = al.getSequenceAt(0) .getSequenceFeatures(); SequenceFeatures.sortFeatures(geneFeatures, true); - assertEquals(geneFeatures.size(), 4); + assertEquals(geneFeatures.size(), 5); SequenceFeature sf = geneFeatures.get(0); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 2); assertEquals(sf.getEnd(), 2); - assertEquals(sf.getScore(), 4.0e-03, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(sf.getValue("AF"), "4.0e-03"); + assertEquals(sf.getValue("AF_AFR"), "2.3e-4"); assertEquals(sf.getValue(Gff3Helper.ALLELES), "A,C"); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + // malformed integer for AC_Female is ignored (JAL-3375) + assertNull(sf.getValue("AC_Female")); + sf = geneFeatures.get(1); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 2); assertEquals(sf.getEnd(), 2); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 5.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 5.0e-03, + DELTA); + assertEquals(sf.getValue("AC_Female"), "12"); + // malformed float for AF_AFR is ignored (JAL-3375) + assertNull(sf.getValue("AC_AFR")); assertEquals(sf.getValue(Gff3Helper.ALLELES), "A,T"); sf = geneFeatures.get(2); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 4); assertEquals(sf.getEnd(), 4); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 2.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 2.0e-03, + DELTA); assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,C"); sf = geneFeatures.get(3); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 4); assertEquals(sf.getEnd(), 4); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 3.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 3.0e-03, + DELTA); assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,GA"); + sf = geneFeatures.get(4); + assertEquals(sf.getFeatureGroup(), "VCF"); + assertEquals(sf.getBegin(), 6); + assertEquals(sf.getEnd(), 6); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + // AF=. should not have been captured + assertNull(sf.getValue("AF")); + assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,C"); + /* * verify variant feature(s) added to transcript */ List transcriptFeatures = al.getSequenceAt(1) .getSequenceFeatures(); - assertEquals(transcriptFeatures.size(), 2); + assertEquals(transcriptFeatures.size(), 3); sf = transcriptFeatures.get(0); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 2); assertEquals(sf.getEnd(), 2); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 2.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 2.0e-03, + DELTA); assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,C"); sf = transcriptFeatures.get(1); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 2); assertEquals(sf.getEnd(), 2); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 3.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 3.0e-03, + DELTA); assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,GA"); /* @@ -165,16 +215,27 @@ public class VCFLoaderTest } } List proteinFeatures = peptide.getSequenceFeatures(); - assertEquals(proteinFeatures.size(), 1); + assertEquals(proteinFeatures.size(), 3); sf = proteinFeatures.get(0); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 1); assertEquals(sf.getEnd(), 1); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); + assertEquals(sf.getType(), SequenceOntologyI.NONSYNONYMOUS_VARIANT); assertEquals(sf.getDescription(), "p.Ser1Thr"); + + /* + * check that sequence_variant attribute AF has been clocked as + * numeric with correct min and max values + * (i.e. invalid values have been ignored - JAL-3375) + */ + FeatureAttributes fa = FeatureAttributes.getInstance(); + assertSame(fa.getDatatype(SEQUENCE_VARIANT, "AF"), Datatype.Number); + float[] minmax = fa.getMinMax(SEQUENCE_VARIANT, "AF"); + assertEquals(minmax[0], 0.002f); + assertEquals(minmax[1], 0.005f); } - private File makeVcf() throws IOException + private File makeVcfFile() throws IOException { File f = File.createTempFile("Test", ".vcf"); f.deleteOnExit(); @@ -314,7 +375,7 @@ public class VCFLoaderTest { AlignmentI al = buildAlignment(); - File f = makeVcf(); + File f = makeVcfFile(); VCFLoader loader = new VCFLoader(f.getPath()); @@ -327,84 +388,97 @@ public class VCFLoaderTest List geneFeatures = al.getSequenceAt(2) .getSequenceFeatures(); SequenceFeatures.sortFeatures(geneFeatures, true); - assertEquals(geneFeatures.size(), 4); + assertEquals(geneFeatures.size(), 5); + SequenceFeature sf; /* - * variant A/T at 45051611 maps to T/A at gene position 24 + * insertion G/GA at 45051613 maps to an insertion at + * the preceding position (21) on reverse strand gene + * reference: CAAGC -> GCTTG/21-25 + * genomic variant: CAAGAC (G/GA) + * gene variant: GTCTTG (G/GT at 21) */ - SequenceFeature sf = geneFeatures.get(3); + sf = geneFeatures.get(1); assertEquals(sf.getFeatureGroup(), "VCF"); - assertEquals(sf.getBegin(), 24); - assertEquals(sf.getEnd(), 24); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 5.0e-03, DELTA); - assertEquals(sf.getValue(Gff3Helper.ALLELES), "T,A"); + assertEquals(sf.getBegin(), 21); + assertEquals(sf.getEnd(), 21); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,GT"); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 3.0e-03, + DELTA); /* - * variant A/C at 45051611 maps to T/G at gene position 24 + * variant G/C at 45051613 maps to C/G at gene position 22 */ sf = geneFeatures.get(2); assertEquals(sf.getFeatureGroup(), "VCF"); - assertEquals(sf.getBegin(), 24); - assertEquals(sf.getEnd(), 24); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 4.0e-03, DELTA); - assertEquals(sf.getValue(Gff3Helper.ALLELES), "T,G"); + assertEquals(sf.getBegin(), 22); + assertEquals(sf.getEnd(), 22); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(sf.getValue(Gff3Helper.ALLELES), "C,G"); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 2.0e-03, + DELTA); /* - * variant G/C at 45051613 maps to C/G at gene position 22 + * variant A/C at 45051611 maps to T/G at gene position 24 */ - sf = geneFeatures.get(1); + sf = geneFeatures.get(3); assertEquals(sf.getFeatureGroup(), "VCF"); - assertEquals(sf.getBegin(), 22); - assertEquals(sf.getEnd(), 22); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 2.0e-03, DELTA); - assertEquals(sf.getValue(Gff3Helper.ALLELES), "C,G"); + assertEquals(sf.getBegin(), 24); + assertEquals(sf.getEnd(), 24); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(sf.getValue(Gff3Helper.ALLELES), "T,G"); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 4.0e-03, + DELTA); /* - * insertion G/GA at 45051613 maps to an insertion at - * the preceding position (21) on reverse strand gene - * reference: CAAGC -> GCTTG/21-25 - * genomic variant: CAAGAC (G/GA) - * gene variant: GTCTTG (G/GT at 21) + * variant A/T at 45051611 maps to T/A at gene position 24 */ - sf = geneFeatures.get(0); + sf = geneFeatures.get(4); assertEquals(sf.getFeatureGroup(), "VCF"); - assertEquals(sf.getBegin(), 21); - assertEquals(sf.getEnd(), 21); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 3.0e-03, DELTA); - assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,GT"); + assertEquals(sf.getBegin(), 24); + assertEquals(sf.getEnd(), 24); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); + assertEquals(sf.getValue(Gff3Helper.ALLELES), "T,A"); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 5.0e-03, + DELTA); /* - * verify 2 variant features added to transcript2 + * verify 3 variant features added to transcript2 */ List transcriptFeatures = al.getSequenceAt(3) .getSequenceFeatures(); - assertEquals(transcriptFeatures.size(), 2); + assertEquals(transcriptFeatures.size(), 3); /* * insertion G/GT at position 21 of gene maps to position 16 of transcript */ - sf = transcriptFeatures.get(0); + sf = transcriptFeatures.get(1); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 16); assertEquals(sf.getEnd(), 16); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 3.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); assertEquals(sf.getValue(Gff3Helper.ALLELES), "G,GT"); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 3.0e-03, + DELTA); /* * SNP C/G at position 22 of gene maps to position 17 of transcript */ - sf = transcriptFeatures.get(1); + sf = transcriptFeatures.get(2); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 17); assertEquals(sf.getEnd(), 17); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); - assertEquals(sf.getScore(), 2.0e-03, DELTA); + assertEquals(sf.getType(), SEQUENCE_VARIANT); + assertEquals(sf.getScore(), 0f); assertEquals(sf.getValue(Gff3Helper.ALLELES), "C,G"); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 2.0e-03, + DELTA); /* * verify variant feature(s) computed and added to protein @@ -420,12 +494,12 @@ public class VCFLoaderTest } } List proteinFeatures = peptide.getSequenceFeatures(); - assertEquals(proteinFeatures.size(), 1); + assertEquals(proteinFeatures.size(), 3); sf = proteinFeatures.get(0); assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 6); assertEquals(sf.getEnd(), 6); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); + assertEquals(sf.getType(), SequenceOntologyI.NONSYNONYMOUS_VARIANT); assertEquals(sf.getDescription(), "p.Ala6Gly"); } @@ -463,7 +537,8 @@ public class VCFLoaderTest SequenceFeature sf = geneFeatures.get(0); assertEquals(sf.getBegin(), 1); assertEquals(sf.getEnd(), 1); - assertEquals(sf.getScore(), 0.1f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.1f, DELTA); assertEquals(sf.getValue("alleles"), "C,A"); // gene features include Consequence for all transcripts Map map = (Map) sf.getValue("CSQ"); @@ -472,7 +547,8 @@ public class VCFLoaderTest sf = geneFeatures.get(1); assertEquals(sf.getBegin(), 5); assertEquals(sf.getEnd(), 5); - assertEquals(sf.getScore(), 0.2f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.2f, DELTA); assertEquals(sf.getValue("alleles"), "C,T"); map = (Map) sf.getValue("CSQ"); assertEquals(map.size(), 9); @@ -480,7 +556,8 @@ public class VCFLoaderTest sf = geneFeatures.get(2); assertEquals(sf.getBegin(), 9); assertEquals(sf.getEnd(), 11); // deletion over 3 positions - assertEquals(sf.getScore(), 0.3f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.3f, DELTA); assertEquals(sf.getValue("alleles"), "CGG,C"); map = (Map) sf.getValue("CSQ"); assertEquals(map.size(), 9); @@ -488,7 +565,8 @@ public class VCFLoaderTest sf = geneFeatures.get(3); assertEquals(sf.getBegin(), 13); assertEquals(sf.getEnd(), 13); - assertEquals(sf.getScore(), 0.5f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.5f, DELTA); assertEquals(sf.getValue("alleles"), "C,T"); map = (Map) sf.getValue("CSQ"); assertEquals(map.size(), 9); @@ -496,7 +574,8 @@ public class VCFLoaderTest sf = geneFeatures.get(4); assertEquals(sf.getBegin(), 13); assertEquals(sf.getEnd(), 13); - assertEquals(sf.getScore(), 0.4f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.4f, DELTA); assertEquals(sf.getValue("alleles"), "C,G"); map = (Map) sf.getValue("CSQ"); assertEquals(map.size(), 9); @@ -504,7 +583,8 @@ public class VCFLoaderTest sf = geneFeatures.get(5); assertEquals(sf.getBegin(), 17); assertEquals(sf.getEnd(), 17); - assertEquals(sf.getScore(), 0.7f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.7f, DELTA); assertEquals(sf.getValue("alleles"), "A,G"); map = (Map) sf.getValue("CSQ"); assertEquals(map.size(), 9); @@ -512,7 +592,8 @@ public class VCFLoaderTest sf = geneFeatures.get(6); assertEquals(sf.getBegin(), 17); assertEquals(sf.getEnd(), 17); // insertion - assertEquals(sf.getScore(), 0.6f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.6f, DELTA); assertEquals(sf.getValue("alleles"), "A,AC"); map = (Map) sf.getValue("CSQ"); assertEquals(map.size(), 9); @@ -530,7 +611,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(0); assertEquals(sf.getBegin(), 3); assertEquals(sf.getEnd(), 3); - assertEquals(sf.getScore(), 0.2f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.2f, DELTA); assertEquals(sf.getValue("alleles"), "C,T"); // transcript features only have Consequence for that transcripts map = (Map) sf.getValue("CSQ"); @@ -540,7 +622,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(1); assertEquals(sf.getBegin(), 11); assertEquals(sf.getEnd(), 11); - assertEquals(sf.getScore(), 0.7f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.7f, DELTA); assertEquals(sf.getValue("alleles"), "A,G"); assertEquals(map.size(), 9); assertEquals(sf.getValueAsString("CSQ", "Feature"), "transcript3"); @@ -548,7 +631,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(2); assertEquals(sf.getBegin(), 11); assertEquals(sf.getEnd(), 11); - assertEquals(sf.getScore(), 0.6f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.6f, DELTA); assertEquals(sf.getValue("alleles"), "A,AC"); assertEquals(map.size(), 9); assertEquals(sf.getValueAsString("CSQ", "Feature"), "transcript3"); @@ -570,12 +654,19 @@ public class VCFLoaderTest } } List proteinFeatures = peptide.getSequenceFeatures(); - assertEquals(proteinFeatures.size(), 1); + SequenceFeatures.sortFeatures(proteinFeatures, true); + assertEquals(proteinFeatures.size(), 2); sf = proteinFeatures.get(0); assertEquals(sf.getFeatureGroup(), "VCF"); + assertEquals(sf.getBegin(), 1); + assertEquals(sf.getEnd(), 1); + assertEquals(sf.getType(), SequenceOntologyI.SYNONYMOUS_VARIANT); + assertEquals(sf.getDescription(), "agC/agT"); + sf = proteinFeatures.get(1); + assertEquals(sf.getFeatureGroup(), "VCF"); assertEquals(sf.getBegin(), 4); assertEquals(sf.getEnd(), 4); - assertEquals(sf.getType(), SequenceOntologyI.SEQUENCE_VARIANT); + assertEquals(sf.getType(), SequenceOntologyI.NONSYNONYMOUS_VARIANT); assertEquals(sf.getDescription(), "p.Glu4Gly"); /* @@ -588,7 +679,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(0); assertEquals(sf.getBegin(), 7); assertEquals(sf.getEnd(), 7); - assertEquals(sf.getScore(), 0.5f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.5f, DELTA); assertEquals(sf.getValue("alleles"), "C,T"); assertEquals(map.size(), 9); assertEquals(sf.getValueAsString("CSQ", "Feature"), "transcript4"); @@ -596,7 +688,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(1); assertEquals(sf.getBegin(), 7); assertEquals(sf.getEnd(), 7); - assertEquals(sf.getScore(), 0.4f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.4f, DELTA); assertEquals(sf.getValue("alleles"), "C,G"); assertEquals(map.size(), 9); assertEquals(sf.getValueAsString("CSQ", "Feature"), "transcript4"); @@ -604,7 +697,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(2); assertEquals(sf.getBegin(), 11); assertEquals(sf.getEnd(), 11); - assertEquals(sf.getScore(), 0.7f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.7f, DELTA); assertEquals(sf.getValue("alleles"), "A,G"); assertEquals(map.size(), 9); assertEquals(sf.getValueAsString("CSQ", "Feature"), "transcript4"); @@ -612,7 +706,8 @@ public class VCFLoaderTest sf = transcriptFeatures.get(3); assertEquals(sf.getBegin(), 11); assertEquals(sf.getEnd(), 11); - assertEquals(sf.getScore(), 0.6f, DELTA); + assertEquals(sf.getScore(), 0f); + assertEquals(Float.parseFloat((String) sf.getValue("AF")), 0.6f, DELTA); assertEquals(sf.getValue("alleles"), "A,AC"); assertEquals(map.size(), 9); assertEquals(sf.getValueAsString("CSQ", "Feature"), "transcript4");