/*
* The MIT License
*
* Copyright (c) 2015 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
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* 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
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*
* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR
* IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY,
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package picard.vcf;
import htsjdk.samtools.util.FormatUtil;
import org.testng.Assert;
import org.testng.annotations.Test;
import picard.vcf.GenotypeConcordanceStates.TruthAndCallStates;
import java.io.File;
import java.util.Collections;
import java.util.HashMap;
import java.util.Map;
import java.util.List;
/**
* Created by kbergin on 6/24/15.
*/
public class GenotypeConcordanceGA4GHSchemeWithMissingTest{
private static final File TEST_DATA_PATH = new File("testdata/picard/vcf/");
final File ceuTrioSNPSVCF = new File(TEST_DATA_PATH, "CEUTrio-snps.vcf");
final File nistTruthVCF = new File(TEST_DATA_PATH, "NIST.selected.vcf");
private final GenotypeConcordanceSchemeFactory schemeFactory = new GenotypeConcordanceSchemeFactory();
final GenotypeConcordanceScheme scheme = schemeFactory.getScheme(true);
final List<File> intervalList = Collections.singletonList(new File(TEST_DATA_PATH, "IntervalList1PerChrom.interval_list"));
@Test
public void testMissingHomRefSchemeWithIntervals() {
final GenotypeConcordanceCounts concordanceCounts = GenotypeConcordanceTest.getGenotypeConcordanceCounts(nistTruthVCF, ceuTrioSNPSVCF, "NA12878", true, intervalList);
concordanceCounts.validateCountsAgainstScheme(scheme);
final Map<GenotypeConcordanceStates.TruthAndCallStates, Integer> nonZeroCounts = new HashMap<GenotypeConcordanceStates.TruthAndCallStates, Integer>();
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.MISSING, GenotypeConcordanceStates.CallState.MISSING), 63001594);
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.MISSING, GenotypeConcordanceStates.CallState.HET_REF_VAR1), 1);
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.MISSING, GenotypeConcordanceStates.CallState.VC_FILTERED), 2);
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.HET_REF_VAR1, GenotypeConcordanceStates.CallState.MISSING), 1);
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.HET_REF_VAR1, GenotypeConcordanceStates.CallState.HET_REF_VAR1), 11);
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.HOM_VAR1, GenotypeConcordanceStates.CallState.MISSING), 4);
nonZeroCounts.put(new TruthAndCallStates(GenotypeConcordanceStates.TruthState.HOM_VAR1, GenotypeConcordanceStates.CallState.HOM_VAR1), 5);
GenotypeConcordanceTest.assertNonZeroCountsAgree(concordanceCounts, nonZeroCounts);
final FormatUtil fmt = new FormatUtil();
Assert.assertEquals(fmt.format(concordanceCounts.getSensitivity(scheme, GenotypeConcordanceCounts.HET_TRUTH_STATES)), "0.916667");
Assert.assertEquals(fmt.format(concordanceCounts.Ppv(scheme, GenotypeConcordanceCounts.HET_CALL_STATES)), "0.916667");
Assert.assertEquals(fmt.format(concordanceCounts.getSensitivity(scheme, GenotypeConcordanceCounts.HOM_VAR_TRUTH_STATES)), "0.555556");
Assert.assertEquals(fmt.format(concordanceCounts.Ppv(scheme, GenotypeConcordanceCounts.HOM_VAR_CALL_STATES)), "1");
Assert.assertEquals(fmt.format(concordanceCounts.getSpecificity(scheme, GenotypeConcordanceCounts.HOM_VAR_TRUTH_STATES)), "?");
Assert.assertEquals(fmt.format(concordanceCounts.getSensitivity(scheme, GenotypeConcordanceCounts.VAR_TRUTH_STATES)), "0.761905");
Assert.assertEquals(fmt.format(concordanceCounts.Ppv(scheme, GenotypeConcordanceCounts.VAR_CALL_STATES)), "0.941176");
Assert.assertEquals(fmt.format(concordanceCounts.getSpecificity(scheme, GenotypeConcordanceCounts.VAR_TRUTH_STATES)), "1");
Assert.assertEquals(fmt.format(concordanceCounts.calculateGenotypeConcordance(scheme, true)), "1");
Assert.assertEquals(fmt.format(concordanceCounts.calculateNonRefGenotypeConcordance(scheme, true)), "0.727273");
}
}