use of htsjdk.variant.variantcontext.filter.CompoundFilter in project hmftools by hartwigmedical.
the class SomaticVariantFactory method filteredInstance.
@NotNull
public static SomaticVariantFactory filteredInstance(@NotNull VariantContextFilter... filters) {
final CompoundFilter filter = new CompoundFilter(true);
filter.add(new ChromosomeFilter());
filter.addAll(Arrays.asList(filters));
return new SomaticVariantFactory(filter);
}
use of htsjdk.variant.variantcontext.filter.CompoundFilter in project hmftools by hartwigmedical.
the class SomaticVariantFactory method passOnlyInstance.
@NotNull
public static SomaticVariantFactory passOnlyInstance() {
final CompoundFilter filter = new CompoundFilter(true);
filter.add(new ChromosomeFilter());
filter.add(new PassingVariantFilter());
return new SomaticVariantFactory(filter);
}
use of htsjdk.variant.variantcontext.filter.CompoundFilter in project hmftools by hartwigmedical.
the class LoadSomaticVariants method main.
public static void main(@NotNull final String[] args) throws ParseException, IOException, SQLException {
final Options options = createBasicOptions();
final CommandLine cmd = createCommandLine(args, options);
final String vcfFileLocation = cmd.getOptionValue(VCF_FILE);
final String highConfidenceBed = cmd.getOptionValue(HIGH_CONFIDENCE_BED);
final String fastaFileLocation = cmd.getOptionValue(REF_GENOME);
final String sample = cmd.getOptionValue(SAMPLE);
final DatabaseAccess dbAccess = databaseAccess(cmd);
final CompoundFilter filter = new CompoundFilter(true);
if (cmd.hasOption(PASS_FILTER)) {
filter.add(new PassingVariantFilter());
}
if (cmd.hasOption(SOMATIC_FILTER)) {
filter.add(new SomaticFilter());
}
LOGGER.info("Reading somatic VCF File");
final List<SomaticVariant> variants = SomaticVariantFactory.filteredInstance(filter).fromVCFFile(sample, vcfFileLocation);
LOGGER.info("Reading high confidence bed file");
final Multimap<String, GenomeRegion> highConfidenceRegions = BEDFileLoader.fromBedFile(highConfidenceBed);
LOGGER.info("Loading indexed fasta reference file");
IndexedFastaSequenceFile indexedFastaSequenceFile = new IndexedFastaSequenceFile(new File(fastaFileLocation));
LOGGER.info("Querying purple database");
final PurityContext purityContext = dbAccess.readPurityContext(sample);
if (purityContext == null) {
LOGGER.warn("Unable to retrieve purple data. Enrichment may be incomplete.");
}
final PurityAdjuster purityAdjuster = purityContext == null ? new PurityAdjuster(Gender.FEMALE, 1, 1) : new PurityAdjuster(purityContext.gender(), purityContext.bestFit().purity(), purityContext.bestFit().normFactor());
final Multimap<String, PurpleCopyNumber> copyNumbers = Multimaps.index(dbAccess.readCopynumbers(sample), PurpleCopyNumber::chromosome);
final Multimap<String, FittedRegion> copyNumberRegions = Multimaps.index(dbAccess.readCopyNumberRegions(sample), FittedRegion::chromosome);
LOGGER.info("Incorporating purple purity");
final PurityAdjustedSomaticVariantFactory purityAdjustmentFactory = new PurityAdjustedSomaticVariantFactory(purityAdjuster, copyNumbers, copyNumberRegions);
final List<PurityAdjustedSomaticVariant> purityAdjustedVariants = purityAdjustmentFactory.create(variants);
final double clonalPloidy = ClonalityCutoffKernel.clonalCutoff(purityAdjustedVariants);
LOGGER.info("Enriching variants");
final EnrichedSomaticVariantFactory enrichedSomaticVariantFactory = new EnrichedSomaticVariantFactory(highConfidenceRegions, indexedFastaSequenceFile, new ClonalityFactory(purityAdjuster, clonalPloidy), CanonicalTranscriptFactory.create(HmfGenePanelSupplier.allGeneList()));
final List<EnrichedSomaticVariant> enrichedVariants = enrichedSomaticVariantFactory.enrich(purityAdjustedVariants);
LOGGER.info("Persisting variants to database");
dbAccess.writeSomaticVariants(sample, enrichedVariants);
LOGGER.info("Complete");
}
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