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Merge pull request #1431 from broadinstitute/sl_issue_1345 

Fixed merging of GVCF blocks by fixing rounding of GQ values in ReferenceConfidenceModel.
This commit is contained in:
samuelklee 2016-07-06 11:46:39 -07:00 committed by GitHub
parent 2c94f74a95 9b32cf5291
commit 77d8da6bb2
5 changed files with 89 additions and 41 deletions
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9
protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/ReferenceConfidenceModel.java
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@ -63,7 +63,9 @@ import org.broadinstitute.gatk.utils.MathUtils;
import org.broadinstitute.gatk.utils.QualityUtils;
import org.broadinstitute.gatk.utils.activeregion.ActiveRegion;
import org.broadinstitute.gatk.utils.contexts.AlignmentContext;
import org.broadinstitute.gatk.utils.genotyper.*;
import org.broadinstitute.gatk.utils.genotyper.ReadLikelihoods;
import org.broadinstitute.gatk.utils.genotyper.SampleList;
import org.broadinstitute.gatk.utils.genotyper.SampleListUtils;
import org.broadinstitute.gatk.utils.haplotype.Haplotype;
import org.broadinstitute.gatk.utils.locusiterator.LocusIteratorByState;
import org.broadinstitute.gatk.utils.pileup.PileupElement;
@ -250,8 +252,9 @@ public class ReferenceConfidenceModel {
// as our GLs for the site.
final GenotypeLikelihoods leastConfidenceGLs = getGLwithWorstGQ(indelGLs, snpGLs);
gb.GQ((int) (-10 * leastConfidenceGLs.getLog10GQ(GenotypeType.HOM_REF)));
gb.PL(leastConfidenceGLs.getAsPLs());
final int[] leastConfidenceGLsAsPLs = leastConfidenceGLs.getAsPLs();
gb.GQ(GATKVariantContextUtils.calculateGQFromPLs(leastConfidenceGLsAsPLs));
gb.PL(leastConfidenceGLsAsPLs);
//gb.attribute(INDEL_INFORMATIVE_DEPTH, nIndelInformativeReads);
vcb.genotypes(gb.make());

22
protected/gatk-tools-protected/src/main/java/org/broadinstitute/gatk/utils/gvcf/GVCFWriter.java
View File

@ -246,7 +246,7 @@ public class GVCFWriter implements VariantContextWriter {
final int[] minPLs = block.getMinPLs();
gb.PL(minPLs);
final int gq = genotypeQualityFromPLs(minPLs);
final int gq = GATKVariantContextUtils.calculateGQFromPLs(minPLs);
gb.GQ(gq);
gb.DP(block.getMedianDP());
gb.attribute(GATKVCFConstants.MIN_DP_FORMAT_KEY, block.getMinDP());
@ -257,26 +257,6 @@ public class GVCFWriter implements VariantContextWriter {
return vcb.genotypes(gb.make()).make();
}
private int genotypeQualityFromPLs(final int[] minPLs) {
int first = minPLs[0];
int second = minPLs[1];
if (first > second) {
second = first;
first = minPLs[1];
}
for (int i = 3; i < minPLs.length; i++) {
final int candidate = minPLs[i];
if (candidate >= second) continue;
if (candidate <= first) {
second = first;
first = candidate;
} else
second = candidate;
}
return second - first;
}
/**
* Helper function to create a new HomRefBlock from a variant context and current genotype
*

44
protected/gatk-tools-protected/src/test/java/org/broadinstitute/gatk/tools/walkers/haplotypecaller/HaplotypeCallerGVCFIntegrationTest.java
View File

@ -86,7 +86,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
//TODO the following test is commented out for the record
//tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.NONE, PCRFreeIntervals, "7f09c261950bf86e435edfa69ed2ec71"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.NONE, PCRFreeIntervals, "8d30370465d74fd549d76dd31adc4c0c"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "119a30fac57a0e5cf1b8164c1059b22c"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "cf5545094ebb264fa8eb879fd848d9ef"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "a6bbc30b82e7864baf64163d55f5aee5"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.NONE, WExIntervals, "2e81881e92061ad4eb29025ffdc129c7"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.BP_RESOLUTION, WExIntervals, "2c67bdc08c8784f2114c2039270b9766"});
@ -105,8 +105,8 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
// this functionality can be adapted to provide input data for whatever you might want in your data
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.NONE, PCRFreeIntervals, "3ae2c7e570855f6d6ca58ddd1089a970"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "822856b75c792be81693019bee672c09"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "6ef5ce3fbc943f15c077a0f12ff5bc2e"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "8bb824886fb0e77d0e8317d69f9d1b62"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "ca87b62a070801e4954d72169b88fb9c"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.NONE, WExIntervals, "63ff771eed3e62340c8938b4963d0add"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.BP_RESOLUTION, WExIntervals, "1122a0b3849f42d1c4a654f93b660e1b"});
@ -128,10 +128,10 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
// this functionality can be adapted to provide input data for whatever you might want in your data
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.NONE, PCRFreeIntervals, "8bf132d73cf6b0851ae73c6799f19ba9"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "2f1534d30b51fd8a7861d73091be2336"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "2307bcb9f9e3468375a389720036b7da"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "450906ce3c11860c25b90cf0a56bb1a0"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "3c0346d41a7e57b45b85a920cc04f51f"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.NONE, WExIntervals, "6ad7855dbf6dda2060aa93a3ee010b3e"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.BP_RESOLUTION, WExIntervals, "a0be095ed902a8acdb80fb56ca4e8fb4"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.BP_RESOLUTION, WExIntervals, "50e628de2a79cd6887af020b713ca3b8"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.GVCF, WExIntervals, "8123d8b68b6fa77ef084f292e191622a"});
return tests.toArray(new Object[][]{});
@ -146,11 +146,11 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
// this functionality can be adapted to provide input data for whatever you might want in your data
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.NONE, PCRFreeIntervals, "6662cfc41393257dfd6c39f1af1e3843"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "7dc7cfd463ecb7ac535c6ba925c46ef0"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "689d4b9cdc21be370c82251e1f7a3c4f"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.BP_RESOLUTION, PCRFreeIntervals, "0bc1ca3bff07381a344685b048e76ee4"});
tests.add(new Object[]{NA12878_PCRFREE, ReferenceConfidenceMode.GVCF, PCRFreeIntervals, "9d1724150feccb0a09b6fad522605bb1"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.NONE, WExIntervals, "af0fe243e3b96e59097187cd16ba1597"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.BP_RESOLUTION, WExIntervals, "228e1d2ec2e729a5f79c37f3f2557708"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.GVCF, WExIntervals, "2fc7020457dde4439b4133c098d9ab9b"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.BP_RESOLUTION, WExIntervals, "8a094080fb25bbcd39325dcdd62bcf65"});
tests.add(new Object[]{NA12878_WEx, ReferenceConfidenceMode.GVCF, WExIntervals, "f35192d245babba9764128abad669019"});
return tests.toArray(new Object[][]{});
}
@ -293,7 +293,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
public void testNoCallGVCFMissingPLsBugFix() {
final String commandLine = String.format("-T HaplotypeCaller --pcr_indel_model NONE -pairHMMSub %s %s -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d",
HMM_SUB_IMPLEMENTATION, ALWAYS_LOAD_VECTOR_HMM, b37KGReference, NOCALL_GVCF_BUGFIX_BAM, NOCALL_GVCF_BUGFIX_INTERVALS, GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("d55ccf214fd5095e6d586c1547cb1a7a"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("9fc3c68f46e747b730615c0be98cb013"));
spec.disableShadowBCF();
executeTest("testNoCallGVCFMissingPLsBugFix", spec);
}
@ -326,7 +326,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
public void testAlleleSpecificAnnotations() {
final String commandLine = String.format("-T HaplotypeCaller --pcr_indel_model NONE -pairHMMSub %s %s -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d -G Standard -G AS_Standard --disableDithering",
HMM_SUB_IMPLEMENTATION, ALWAYS_LOAD_VECTOR_HMM, b37KGReference, privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", "20:10433000-10437000", GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("1733d15e960ed473f58a2bfc7f686a2e"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("d986868d83057c0ecdf7ba177b8282f3"));
spec.disableShadowBCF();
executeTest(" testAlleleSpecificAnnotations", spec);
}
@ -335,7 +335,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
public void testASMQMateRankSumAnnotation() {
final String commandLine = String.format("-T HaplotypeCaller --pcr_indel_model NONE -pairHMMSub %s %s -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d -A AS_MQMateRankSumTest --disableDithering",
HMM_SUB_IMPLEMENTATION, ALWAYS_LOAD_VECTOR_HMM, b37KGReference, privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", "20:10433000-10437000", GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("e6e09a82cade24f8121c81c1d43b5d03"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("87723bd4442c7ec25f65a77d6434957a"));
spec.disableShadowBCF();
executeTest(" testASMQMateRankSumAnnotation", spec);
}
@ -344,7 +344,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
public void testASInsertSizeRankSum() {
final String commandLine = String.format("-T HaplotypeCaller --pcr_indel_model NONE -pairHMMSub %s %s -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d -G Standard -G AS_Standard --disableDithering -A AS_InsertSizeRankSum",
HMM_SUB_IMPLEMENTATION, ALWAYS_LOAD_VECTOR_HMM, b37KGReference, privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", "20:10433000-10437000", GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("33db0c7e64fc963c160f8bb59d983375"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("a63d6912b2f2fab7debee9488fbbd0b0"));
spec.disableShadowBCF();
executeTest(" testASInsertSizeRankSum", spec);
}
@ -362,7 +362,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
public void testHaplotypeCallerMaxNumPLValues() {
final String commandLine = String.format("-T HaplotypeCaller -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d -ploidy 4 -maxNumPLValues 70",
b37KGReference, privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals", GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("1176028faca6cd397f581f9e60c474a8"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Collections.singletonList("446604d4398d4c1bad41b9506624ab91"));
spec.disableShadowBCF();
executeTest("testHaplotypeCallerMaxNumPLValues", spec);
}
@ -379,7 +379,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
final String commandLine = String.format("-T HaplotypeCaller -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d -ploidy 4 -maxNumPLValues 30 -log %s",
b37KGReference, privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals",
GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER, logFileName);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("19f5398e4013c06b52c0085fe0b3469e"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("a01abc7e0b4a486125967d3a1ebcc33f"));
spec.disableShadowBCF();
executeTest("testHaplotypeCallerMaxNumPLValuesExceededWithWarnLogLevel", spec);
// Make sure the "Maximum allowed number of PLs exceeded" messages are in the log
@ -404,7 +404,7 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
final String commandLine = String.format("-T HaplotypeCaller -R %s -I %s -L %s -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d -ploidy 4 -maxNumPLValues 30 -log %s",
b37KGReference, privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals",
GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER, logFileName);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("19f5398e4013c06b52c0085fe0b3469e"));
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("a01abc7e0b4a486125967d3a1ebcc33f"));
spec.disableShadowBCF();
executeTest("testHaplotypeCallerMaxNumPLValuesExceededWithDebugLogLevel", spec);
// Make sure the "Maximum allowed number of PLs exceeded" messages are in the log
@ -414,4 +414,14 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
// Set the log level back
logger.setLevel(level);
}
//Regression test for https://github.com/broadinstitute/gsa-unstable/issues/1345
@Test
public void testHaplotypeCallerGVCFBlocks() {
final String commandLine = String.format("-T HaplotypeCaller -R %s -I %s -L 1:1-1000000 -ERC GVCF --no_cmdline_in_header -variant_index_type %s -variant_index_parameter %d",
b37KGReference, privateTestDir + "gvcf_blocks_test.bam", GATKVCFUtils.DEFAULT_GVCF_INDEX_TYPE, GATKVCFUtils.DEFAULT_GVCF_INDEX_PARAMETER);
final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList("802c53621bd2004d9052a8e81d91df3e"));
spec.disableShadowBCF();
executeTest("testHaplotypeCallerGVCFBlocks", spec);
}
}

26
public/gatk-utils/src/main/java/org/broadinstitute/gatk/utils/variant/GATKVariantContextUtils.java
View File

@ -2314,5 +2314,31 @@ public class GATKVariantContextUtils {
builder.attribute(VCFConstants.ALLELE_FREQUENCY_KEY, alleleFrequency.toArray());
}
}
/**
* @param plValues array of PL values
* @return the genotype quality corresponding to the PL values
*/
public static int calculateGQFromPLs(final int[] plValues) {
if ( plValues == null ) throw new IllegalArgumentException("Array of PL values cannot be null.");
if ( plValues.length < 2 ) throw new IllegalArgumentException("Array of PL values must contain at least two elements.");
int first = plValues[0];
int second = plValues[1];
if (first > second) {
second = first;
first = plValues[1];
}
for (int i = 2; i < plValues.length; i++) {
final int candidate = plValues[i];
if (candidate >= second) continue;
if (candidate <= first) {
second = first;
first = candidate;
} else
second = candidate;
}
return second - first;
}
}

29
public/gatk-utils/src/test/java/org/broadinstitute/gatk/utils/variant/GATKVariantContextUtilsUnitTest.java
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@ -1872,5 +1872,34 @@ public class GATKVariantContextUtilsUnitTest extends BaseTest {
final Map<Allele, Integer> calledAltAlleles = new LinkedHashMap<>();
GATKVariantContextUtils.updateChromosomeCountsInfo(calledAltAlleles, calledAlleles, null);
}
@DataProvider(name="gqFromPLsData")
public Object[][] gqFromPLsData() {
return new Object[][]{
{new int[]{0, 15}, 15},
{new int[]{15, 0}, 15},
{new int[]{0, 10, 20}, 10},
{new int[]{20, 10, 0}, 10},
{new int[]{0, 10, 20, 30, 40}, 10},
{new int[]{30, 40, 20, 10, 0}, 10},
{new int[]{-10, 20, 35}, 30},
{new int[]{35, 40, -10, 15, 20}, 25},
{new int[]{0, 10, 20, 30, 40, 50, 5}, 5},
{new int[]{15, 15, 0, 5}, 5},
{new int[]{15, 15, 0, 25}, 15},
{new int[]{0, 15, 0, 25}, 0}
};
}
@Test(dataProvider = "gqFromPLsData")
public void testCalculateGQFromPLs(final int[] plValues, final int expectedGQ) {
Assert.assertEquals(GATKVariantContextUtils.calculateGQFromPLs(plValues), expectedGQ);
}
@Test(expectedExceptions = IllegalArgumentException.class)
public void testCalculateGQFromShortPLArray() {
final int[] plValues = new int[]{0};
GATKVariantContextUtils.calculateGQFromPLs(plValues);
}
}