Misc cleanup of UG args
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@2620 348d0f76-0448-11de-a6fe-93d51630548a
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a57886ab81
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@ -70,7 +70,6 @@ public abstract class GenotypeCalculationModel implements Cloneable {
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GENOTYPE_MODE = UAC.GENOTYPE;
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POOL_SIZE = UAC.POOLSIZE;
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CONFIDENCE_THRESHOLD = UAC.CONFIDENCE_THRESHOLD;
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MINIMUM_ALLELE_FREQUENCY = UAC.MINIMUM_ALLELE_FREQUENCY;
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REPORT_SLOD = ! UAC.NO_SLOD;
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this.verboseWriter = verboseWriter;
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this.beagleWriter = beagleWriter;
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@ -228,34 +228,6 @@ public abstract class JointEstimateGenotypeCalculationModel extends GenotypeCalc
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PofFs[baseIndex] = Math.min(sum, 1.0); // deal with precision errors
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}
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/***
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protected double[] getHardyWeinbergValues(double f) {
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double[] HWvalues = hardyWeinbergValueCache.get(f);
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// if it hasn't been calculated yet, do so now
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if ( HWvalues == null ) {
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// create Hardy-Weinberg based allele frequencies (p^2, 2pq, q^2) converted to log-space
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double p = 1.0 - f;
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double q = f;
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// allele frequencies don't actually equal 0...
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if ( MathUtils.compareDoubles(q, 0.0) == 0 ) {
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q = MINIMUM_ALLELE_FREQUENCY;
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p -= MINIMUM_ALLELE_FREQUENCY;
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} else if ( MathUtils.compareDoubles(p, 0.0) == 0 ) {
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p = MINIMUM_ALLELE_FREQUENCY;
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q -= MINIMUM_ALLELE_FREQUENCY;
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}
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HWvalues = new double[] { Math.pow(p, 2), 2.0 * p * q, Math.pow(q, 2) };
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hardyWeinbergValueCache.put(f, HWvalues);
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}
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return HWvalues;
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}
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***/
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/**
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* @param ref the ref base
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* @param loc the GenomeLoc
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@ -66,9 +66,6 @@ public class UnifiedArgumentCollection {
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// control the various parameters to be used
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@Argument(fullName = "lod_threshold", shortName = "lod", doc = "[DEPRECATED] The lod threshold by which variants should be filtered", required = false)
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public double LOD_THRESHOLD = Double.MIN_VALUE;
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@Argument(fullName = "min_confidence_threshold", shortName = "confidence", doc = "The phred-scaled confidence threshold by which variants should be filtered", required = false)
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public double CONFIDENCE_THRESHOLD = 0.0;
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@ -89,7 +86,4 @@ public class UnifiedArgumentCollection {
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@Argument(fullName = "max_coverage", shortName = "mc", doc = "Maximum reads at this locus for it to be callable; to disable, provide value < 1 [default:10,000]", required = false)
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public Integer MAX_READS_IN_PILEUP = 10000;
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@Argument(fullName = "min_allele_frequency", shortName = "min_freq", doc = "The minimum possible allele frequency in a population (advanced)", required = false)
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public double MINIMUM_ALLELE_FREQUENCY = 1e-8;
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}
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@ -96,22 +96,12 @@ public class UnifiedGenotyper extends LocusWalker<Pair<VariationCall, List<Genot
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if ( UAC.POOLSIZE < 1 && UAC.genotypeModel == GenotypeCalculationModel.Model.POOLED ) {
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throw new IllegalArgumentException("Attempting to use the POOLED model with a pool size less than 1. Please set the pool size to an appropriate value.");
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}
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if ( UAC.LOD_THRESHOLD != Double.MIN_VALUE ) {
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StringBuilder sb = new StringBuilder();
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sb.append("\n***\tThe --lod_threshold argument is no longer supported; instead, please use --min_confidence_threshold.");
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sb.append("\n***\tThere is approximately a 10-to-1 mapping from confidence to LOD.");
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sb.append("\n***\tUse Q" + (10.0 * UAC.LOD_THRESHOLD) + " as an approximate equivalent to your LOD " + UAC.LOD_THRESHOLD + " cutoff");
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throw new IllegalArgumentException(sb.toString());
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}
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if ( beagleWriter != null && UAC.genotypeModel == GenotypeCalculationModel.Model.EM_POINT_ESTIMATE ) {
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throw new IllegalArgumentException("BEAGLE output is not currently supported in the EM_POINT_ESTIMATE calculation model.");
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}
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// some arguments can't be handled (at least for now) while we are multi-threaded
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if ( getToolkit().getArguments().numberOfThreads > 1 ) {
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// no ASSUME_SINGLE_SAMPLE because the IO system doesn't know how to get the sample name
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if ( UAC.ASSUME_SINGLE_SAMPLE != null )
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throw new IllegalArgumentException("For technical reasons, the ASSUME_SINGLE_SAMPLE argument cannot be used with multiple threads");
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if ( getToolkit().getArguments().numberOfThreads > 1 && UAC.ASSUME_SINGLE_SAMPLE != null ) {
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// the ASSUME_SINGLE_SAMPLE argument can't be handled (at least for now) while we are multi-threaded because the IO system doesn't know how to get the sample name
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throw new IllegalArgumentException("For technical reasons, the ASSUME_SINGLE_SAMPLE argument cannot be used with multiple threads");
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}
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// get all of the unique sample names - unless we're in POOLED mode, in which case we ignore the sample names
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@ -22,7 +22,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot1PointEM() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -varout %s -L 1:10,023,400-10,024,000 -bm empirical -gm EM_POINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("f033627f849ca8148fe4168c8172eb32"));
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Arrays.asList("6a36a1237b1f2b704c682ac947aeb692"));
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executeTest("testMultiSamplePilot1 - Point Estimate EM", spec);
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}
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@ -30,7 +30,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot2PointEM() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -varout %s -L 20:10,000,000-10,010,000 -bm empirical -gm EM_POINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("2d181aa420f200fb19a0b5f40855dfd7"));
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Arrays.asList("4f221d23a8c218ea592fb7158736a407"));
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executeTest("testMultiSamplePilot2 - Point Estimate EM", spec);
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}
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@ -43,7 +43,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testPooled1() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -varout %s -L 1:10,023,000-10,024,000 -bm empirical -gm POOLED -ps 60 -confidence 30", 1,
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Arrays.asList("1fc421c8e5ccba7ba2f803fc17c27565"));
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Arrays.asList("e344fa16b155be00bc4d9b8cc3221187"));
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executeTest("testPooled1", spec);
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}
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@ -56,7 +56,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot1Joint() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -varout %s -L 1:10,022,000-10,025,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("b8b937e5d44114c265cfa86dbb5e45c8"));
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Arrays.asList("6f85a0d0134675be6fe8d3af9e9f7467"));
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executeTest("testMultiSamplePilot1 - Joint Estimate", spec);
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}
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@ -64,7 +64,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot2Joint() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -varout %s -L 20:10,000,000-10,050,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("499a589c9da3a6adcccc4561b84dfde1"));
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Arrays.asList("4a7e44e834d100b143e52beffdd79d1f"));
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executeTest("testMultiSamplePilot2 - Joint Estimate", spec);
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}
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@ -72,7 +72,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testSingleSamplePilot2Joint() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,100,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30", 1,
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Arrays.asList("1dc507fbe54e289f18d9738398426050"));
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Arrays.asList("d3adfbae8c9d18851cab13659239bc03"));
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executeTest("testSingleSamplePilot2 - Joint Estimate", spec);
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}
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@ -85,7 +85,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testParallelization() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,400,000 -bm empirical -gm JOINT_ESTIMATE -confidence 30 -nt 4", 1,
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Arrays.asList("6ae7741b72024781aa2969c785ede392"));
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Arrays.asList("a57dabbe7dd12015759de72fef8bc879"));
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executeTest("test parallelization", spec);
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}
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@ -98,11 +98,11 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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@Test
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public void testParameter() {
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HashMap<String, String> e = new HashMap<String, String>();
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e.put( "-genotype", "094c15be4f9b7c348a12f4bc27efb6e3" );
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e.put( "-all_bases", "0097049976ba72dc70476670f1ab2ec6" );
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e.put( "--min_base_quality_score 26", "fa88be0dc1f6807829f15df82d3cf393" );
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e.put( "--min_mapping_quality_score 26", "225f47a2f73cd4ca16606e0fcc09ba51" );
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e.put( "--max_mismatches_in_40bp_window 5", "d8192dc36ebc205aaaaae7734a6144b5" );
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e.put( "-genotype", "65abc7cbf940f89037ec61b764054060" );
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e.put( "-all_bases", "ff63408d7b5aeb90bc85e471d9de1390" );
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e.put( "--min_base_quality_score 26", "287858958aa8cf3be8b43c12cb317ebc" );
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e.put( "--min_mapping_quality_score 26", "4e70544703309610e70164db100c66b7" );
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e.put( "--max_mismatches_in_40bp_window 5", "14e17c27b6559f9b98d91842c271db3f" );
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for ( Map.Entry<String, String> entry : e.entrySet() ) {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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@ -116,7 +116,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testConfidence() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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"-T UnifiedGenotyper -R " + oneKGLocation + "reference/human_b36_both.fasta -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -varout %s -L 1:10,000,000-10,010,000 -bm empirical -gm JOINT_ESTIMATE -confidence 10 ", 1,
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Arrays.asList("63b37207255069ca47a6ffd77bf562f0"));
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Arrays.asList("ae98a5e96af774514eac5dea31078e0c"));
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executeTest("testConfidence", spec);
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}
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