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update/fix variant stat calculation (#198)
* update variant stat calculation
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183
.../configuration/jobs/steps/variantstats/VariantStatsStepTestWithMultipleEntriesForFid.java
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/* | ||
* Copyright 2024 EMBL - European Bioinformatics Institute | ||
* | ||
* Licensed under the Apache License, Version 2.0 (the "License"); | ||
* you may not use this file except in compliance with the License. | ||
* You may obtain a copy of the License at | ||
* | ||
* http://www.apache.org/licenses/LICENSE-2.0 | ||
* | ||
* Unless required by applicable law or agreed to in writing, software | ||
* distributed under the License is distributed on an "AS IS" BASIS, | ||
* WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. | ||
* See the License for the specific language governing permissions and | ||
* limitations under the License. | ||
*/ | ||
package uk.ac.ebi.eva.pipeline.configuration.jobs.steps.variantstats; | ||
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import com.mongodb.client.MongoCollection; | ||
import org.bson.Document; | ||
import org.junit.After; | ||
import org.junit.Assert; | ||
import org.junit.Before; | ||
import org.junit.Rule; | ||
import org.junit.Test; | ||
import org.junit.runner.RunWith; | ||
import org.springframework.batch.core.JobExecution; | ||
import org.springframework.batch.core.JobParameters; | ||
import org.springframework.batch.test.JobLauncherTestUtils; | ||
import org.springframework.beans.factory.annotation.Autowired; | ||
import org.springframework.test.context.ContextConfiguration; | ||
import org.springframework.test.context.TestPropertySource; | ||
import org.springframework.test.context.junit4.SpringRunner; | ||
import uk.ac.ebi.eva.pipeline.configuration.BeanNames; | ||
import uk.ac.ebi.eva.pipeline.configuration.MongoConfiguration; | ||
import uk.ac.ebi.eva.pipeline.configuration.jobs.VariantStatsJobConfiguration; | ||
import uk.ac.ebi.eva.pipeline.configuration.jobs.steps.VariantStatsStepConfiguration; | ||
import uk.ac.ebi.eva.test.configuration.BatchTestConfiguration; | ||
import uk.ac.ebi.eva.test.configuration.TemporaryRuleConfiguration; | ||
import uk.ac.ebi.eva.test.rules.PipelineTemporaryFolderRule; | ||
import uk.ac.ebi.eva.test.rules.TemporaryMongoRule; | ||
import uk.ac.ebi.eva.utils.EvaJobParameterBuilder; | ||
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import java.util.ArrayList; | ||
import java.util.Arrays; | ||
import java.util.List; | ||
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import static org.junit.Assert.assertEquals; | ||
import static uk.ac.ebi.eva.test.utils.JobTestUtils.assertCompleted; | ||
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/** | ||
* Test for {@link VariantStatsStepConfiguration} | ||
*/ | ||
@RunWith(SpringRunner.class) | ||
@TestPropertySource({"classpath:test-stats.properties"}) | ||
@ContextConfiguration(classes = {VariantStatsJobConfiguration.class, BatchTestConfiguration.class, | ||
TemporaryRuleConfiguration.class, MongoConfiguration.class}) | ||
public class VariantStatsStepTestWithMultipleEntriesForFid { | ||
private static final String COLLECTION_VARIANTS_NAME = "variants"; | ||
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private static final String COLLECTION_FILES_NAME = "files"; | ||
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private static final String DATABASE_NAME = "variant_stats_test_db"; | ||
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@Autowired | ||
@Rule | ||
public TemporaryMongoRule mongoRule; | ||
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@Rule | ||
public PipelineTemporaryFolderRule temporaryFolderRule = new PipelineTemporaryFolderRule(); | ||
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@Autowired | ||
private JobLauncherTestUtils jobLauncherTestUtils; | ||
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@Before | ||
public void setUp() throws Exception { | ||
mongoRule.getTemporaryDatabase(DATABASE_NAME).drop(); | ||
} | ||
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@After | ||
public void cleanUp() { | ||
mongoRule.getTemporaryDatabase(DATABASE_NAME).drop(); | ||
} | ||
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@Test | ||
public void variantStatsStepShouldCalculateAndLoadStats_WhereFidHasMoreThanOneFile() { | ||
MongoCollection<Document> filesCollection = mongoRule.getCollection(DATABASE_NAME, COLLECTION_FILES_NAME); | ||
MongoCollection<Document> variantsCollection = mongoRule.getCollection(DATABASE_NAME, COLLECTION_VARIANTS_NAME); | ||
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filesCollection.insertMany(Arrays.asList( | ||
new Document("sid", "sid1").append("fid", "fid1").append("fname", "fname11") | ||
.append("samp", new Document("samp11", 0).append("samp12", 1).append("samp13", 2)), | ||
// multiple entries for fid2 in the files collection | ||
new Document("sid", "sid1").append("fid", "fid2").append("fname", "fname21") | ||
.append("samp", new Document("samp21", 0).append("samp22", 1)).append("samp23", 2), | ||
new Document("sid", "sid1").append("fid", "fid2").append("fname", "fname22") | ||
.append("samp", new Document("samp31", 0).append("samp32", 1)).append("samp33", 2) | ||
)); | ||
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variantsCollection.insertMany(Arrays.asList( | ||
new Document("_id", "chr1_11111111_A_G").append("ref", "A").append("alt", "G") | ||
.append("files", Arrays.asList( | ||
// stats should be calculated | ||
new Document("sid", "sid1").append("fid", "fid1") | ||
.append("samp", new Document("def", "0|0").append("0|1", Arrays.asList(1))), | ||
// should not calculate stats - fid2 has more than one entry in the files collection | ||
new Document("sid", "sid1").append("fid", "fid2") | ||
.append("samp", new Document("def", "0|0").append("0|1", Arrays.asList(1))), | ||
// should not calculate stats - no entry for fid3 in files collection | ||
new Document("sid", "sid1").append("fid", "fid3") | ||
.append("samp", new Document("def", "0|0").append("0|1", Arrays.asList(1))), | ||
// should not calculate stats - different study | ||
new Document("sid", "sid2").append("fid", "fid1") | ||
.append("samp", new Document("def", "0|0").append("0|1", Arrays.asList(1))) | ||
)) | ||
.append("st", Arrays.asList( | ||
// should be updated with new values | ||
new Document("sid", "sid1").append("fid", "fid1") | ||
.append("maf", 0.1).append("mgf", 0.1) | ||
.append("mafAl", "A").append("mgfGt", "0|0"), | ||
// should not change as it belongs to different study id | ||
new Document("sid", "sid2").append("fid", "fid1") | ||
.append("maf", 0.20000000298023224).append("mgf", 0.20000000298023224) | ||
.append("mafAl", "A").append("mgfGt", "0|0"), | ||
// should not change as it belongs to different fid | ||
new Document("sid", "sid1").append("fid", "fid3") | ||
.append("maf", 0.30000001192092896).append("mgf", 0.30000001192092896) | ||
.append("mafAl", "A").append("mgfGt", "0|0") | ||
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)) | ||
)); | ||
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JobParameters jobParameters = new EvaJobParameterBuilder() | ||
.collectionFilesName(COLLECTION_FILES_NAME) | ||
.collectionVariantsName(COLLECTION_VARIANTS_NAME) | ||
.databaseName(DATABASE_NAME) | ||
.inputStudyId("sid1") | ||
.chunkSize("100") | ||
.toJobParameters(); | ||
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JobExecution jobExecution = jobLauncherTestUtils.launchStep(BeanNames.VARIANT_STATS_STEP, jobParameters); | ||
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// check job completed successfully | ||
assertCompleted(jobExecution); | ||
List<Document> documents = mongoRule.getTemporaryDatabase(DATABASE_NAME).getCollection(COLLECTION_VARIANTS_NAME) | ||
.find().into(new ArrayList<>()); | ||
Assert.assertTrue(documents.size() == 1); | ||
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// assert data | ||
ArrayList<Document> variantStatsList = documents.stream().filter(doc -> doc.get("_id").equals("chr1_11111111_A_G")) | ||
.findFirst().get().get("st", ArrayList.class); | ||
assertEquals(3, variantStatsList.size()); | ||
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// assert remained unchanged | ||
Document variantStatsForSid2Fid1 = variantStatsList.stream() | ||
.filter(st -> st.get("sid").equals("sid2") && st.get("fid").equals("fid1")).findFirst().get(); | ||
assertEquals(0.20000000298023224, variantStatsForSid2Fid1.get("maf")); | ||
assertEquals(0.20000000298023224, variantStatsForSid2Fid1.get("mgf")); | ||
assertEquals("A", variantStatsForSid2Fid1.get("mafAl")); | ||
assertEquals("0|0", variantStatsForSid2Fid1.get("mgfGt")); | ||
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// assert remained unchanged | ||
Document variantStatsForSid1Fid3 = variantStatsList.stream() | ||
.filter(st -> st.get("sid").equals("sid1") && st.get("fid").equals("fid3")).findFirst().get(); | ||
assertEquals(0.30000001192092896, variantStatsForSid1Fid3.get("maf")); | ||
assertEquals(0.30000001192092896, variantStatsForSid1Fid3.get("mgf")); | ||
assertEquals("A", variantStatsForSid1Fid3.get("mafAl")); | ||
assertEquals("0|0", variantStatsForSid1Fid3.get("mgfGt")); | ||
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// assert updated with new stats | ||
Document variantStatsForSid1Fid1 = variantStatsList.stream() | ||
.filter(st -> st.get("sid").equals("sid1") && st.get("fid").equals("fid1")).findFirst().get(); | ||
Document numOfGT = (Document) variantStatsForSid1Fid1.get("numGt"); | ||
assertEquals(2, numOfGT.get("0|0")); | ||
assertEquals(1, numOfGT.get("0|1")); | ||
assertEquals(0.1666666716337204, variantStatsForSid1Fid1.get("maf")); | ||
assertEquals(0.3333333432674408, variantStatsForSid1Fid1.get("mgf")); | ||
assertEquals("G", variantStatsForSid1Fid1.get("mafAl")); | ||
assertEquals("0|1", variantStatsForSid1Fid1.get("mgfGt")); | ||
assertEquals(0, variantStatsForSid1Fid1.get("missAl")); | ||
assertEquals(0, variantStatsForSid1Fid1.get("missGt")); | ||
} | ||
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} |