JAL-1793 simple tests of reading raw and indexed VCF files with htsjdk

diff --git a/test/jalview/ext/htsjdk/TabixFeatureReaderTest.java b/test/jalview/ext/htsjdk/TabixFeatureReaderTest.java
new file mode 100644 (file)
index 0000000..48a932e
--- /dev/null
+++ b/test/jalview/ext/htsjdk/TabixFeatureReaderTest.java
@@ -0,0 +1,51 @@
+package jalview.ext.htsjdk;
+
+import htsjdk.tribble.CloseableTribbleIterator;
+import htsjdk.tribble.TabixFeatureReader;
+import htsjdk.variant.variantcontext.VariantContext;
+import htsjdk.variant.vcf.VCFCodec;
+
+import java.io.IOException;
+
+import org.testng.annotations.Test;
+
+public class TabixFeatureReaderTest
+{
+  // gnomAD exome variant dataset
+  private static final String VCF_PATH = "/Volumes/gjb/smacgowan/NOBACK/resources/gnomad/gnomad.exomes.r2.0.1.sites.vcf.gz";
+
+  // "https://storage.cloud.google.com/gnomad-public/release/2.0.1/vcf/exomes/gnomad.exomes.r2.0.1.sites.vcf.gz";
+
+  /**
+   * A 'test' that demonstrates querying an indexed VCF file for features in a
+   * specified interval
+   * 
+   * @throws IOException
+   */
+  @Test
+  public void testQuery() throws IOException
+  {
+    /*
+     * if not specified, assumes index file is filename.tbi
+     */
+    TabixFeatureReader<VariantContext, VCFCodec> reader = new TabixFeatureReader<>(
+            VCF_PATH, VCF_PATH, new VCFCodec());
+
+    /*
+     * gene NMT1 (human) is on chromosome 17
+     * GCHR38 (Ensembl): 45051610-45109016
+     * GCHR37 (gnoMAD): 43128978-43186384
+     * CDS begins at offset 9720, first CDS variant at offset 9724
+     */
+    CloseableTribbleIterator<VariantContext> features = reader.query("17",
+            43128978 + 9724, 43128978 + 9734); // first 11 CDS positions
+    while (features.hasNext())
+    {
+      System.out.println(features.next().toString());
+    }
+
+    features.close();
+    reader.close();
+  }
+
+}

diff --git a/test/jalview/ext/htsjdk/VCFFileReaderTest.java b/test/jalview/ext/htsjdk/VCFFileReaderTest.java
new file mode 100644 (file)
index 0000000..50147e7
--- /dev/null
+++ b/test/jalview/ext/htsjdk/VCFFileReaderTest.java
@@ -0,0 +1,106 @@
+package jalview.ext.htsjdk;
+
+import static org.testng.Assert.assertEquals;
+import static org.testng.Assert.assertFalse;
+import static org.testng.Assert.assertTrue;
+import htsjdk.samtools.util.CloseableIterator;
+import htsjdk.variant.variantcontext.Allele;
+import htsjdk.variant.variantcontext.VariantContext;
+import htsjdk.variant.vcf.VCFFileReader;
+
+import java.io.File;
+import java.io.IOException;
+import java.io.PrintWriter;
+import java.util.List;
+
+import org.testng.annotations.Test;
+
+public class VCFFileReaderTest
+{
+  private static final String[] VCF = new String[] {
+      "##fileformat=VCFv4.2",
+      "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO",
+      "20\t3\t.\tC\tG\t.\tPASS\tDP=100", // SNP C/G
+      "20\t7\t.\tG\tGA\t.\tPASS\tDP=100", // insertion G/GA
+      "18\t2\t.\tACG\tA\t.\tPASS\tDP=100" }; // deletion ACG/A
+
+  /**
+   * A test to exercise some basic functionality of the htsjdk VCF reader
+   * 
+   * @throws IOException
+   */
+  @Test(groups = "Functional")
+  public void testReadVcf() throws IOException
+  {
+    File f = writeVcfFile();
+    VCFFileReader reader = new VCFFileReader(f, false);
+    CloseableIterator<VariantContext> variants = reader.iterator();
+
+    /*
+     * SNP C/G variant
+     */
+    VariantContext vc = variants.next();
+    assertTrue(vc.isSNP());
+    Allele ref = vc.getReference();
+    assertEquals(ref.getBaseString(), "C");
+    List<Allele> alleles = vc.getAlleles();
+    assertEquals(alleles.size(), 2);
+    assertTrue(alleles.get(0).isReference());
+    assertEquals(alleles.get(0).getBaseString(), "C");
+    assertFalse(alleles.get(1).isReference());
+    assertEquals(alleles.get(1).getBaseString(), "G");
+
+    /*
+     * Insertion G -> GA
+     */
+    vc = variants.next();
+    assertFalse(vc.isSNP());
+    assertTrue(vc.isSimpleInsertion());
+    ref = vc.getReference();
+    assertEquals(ref.getBaseString(), "G");
+    alleles = vc.getAlleles();
+    assertEquals(alleles.size(), 2);
+    assertTrue(alleles.get(0).isReference());
+    assertEquals(alleles.get(0).getBaseString(), "G");
+    assertFalse(alleles.get(1).isReference());
+    assertEquals(alleles.get(1).getBaseString(), "GA");
+
+    /*
+     * Deletion ACG -> A
+     */
+    vc = variants.next();
+    assertFalse(vc.isSNP());
+    assertTrue(vc.isSimpleDeletion());
+    ref = vc.getReference();
+    assertEquals(ref.getBaseString(), "ACG");
+    alleles = vc.getAlleles();
+    assertEquals(alleles.size(), 2);
+    assertTrue(alleles.get(0).isReference());
+    assertEquals(alleles.get(0).getBaseString(), "ACG");
+    assertFalse(alleles.get(1).isReference());
+    assertEquals(alleles.get(1).getBaseString(), "A");
+
+    assertFalse(variants.hasNext());
+
+    variants.close();
+    reader.close();
+  }
+
+  /**
+   * Creates a temporary file to be read by the htsjdk VCF reader
+   * 
+   * @return
+   * @throws IOException
+   */
+  protected File writeVcfFile() throws IOException
+  {
+    File f = File.createTempFile("Test", "vcf");
+    f.deleteOnExit();
+    PrintWriter pw = new PrintWriter(f);
+    for (String vcfLine : VCF) {
+      pw.println(vcfLine);
+    }
+    pw.close();
+    return f;
+  }
+}