Exemplo n.º 1
0
  private SnpEffEffect getMostSignificantEffect(List<SnpEffEffect> effects) {
    SnpEffEffect mostSignificantEffect = null;

    for (SnpEffEffect effect : effects) {
      if (mostSignificantEffect == null || effect.isHigherImpactThan(mostSignificantEffect)) {

        mostSignificantEffect = effect;
      }
    }

    return mostSignificantEffect;
  }
Exemplo n.º 2
0
  private List<SnpEffEffect> parseSnpEffRecord(VariantContext snpEffRecord) {
    List<SnpEffEffect> parsedEffects = new ArrayList<SnpEffEffect>();

    Object effectFieldValue = snpEffRecord.getAttribute(SNPEFF_INFO_FIELD_KEY);
    if (effectFieldValue == null) {
      return parsedEffects;
    }

    // The VCF codec stores multi-valued fields as a List<String>, and single-valued fields as a
    // String.
    // We can have either in the case of SnpEff, since there may be one or more than one effect in
    // this record.
    List<String> individualEffects;
    if (effectFieldValue instanceof List) {
      individualEffects = (List<String>) effectFieldValue;
    } else {
      individualEffects = Arrays.asList((String) effectFieldValue);
    }

    for (String effectString : individualEffects) {
      String[] effectNameAndMetadata = effectString.split(SNPEFF_EFFECT_METADATA_DELIMITER);

      if (effectNameAndMetadata.length != 2) {
        logger.warn(
            String.format(
                "Malformed SnpEff effect field at %s:%d, skipping: %s",
                snpEffRecord.getChr(), snpEffRecord.getStart(), effectString));
        continue;
      }

      String effectName = effectNameAndMetadata[0];
      String[] effectMetadata =
          effectNameAndMetadata[1].split(SNPEFF_EFFECT_METADATA_SUBFIELD_DELIMITER, -1);

      SnpEffEffect parsedEffect = new SnpEffEffect(effectName, effectMetadata);

      if (parsedEffect.isWellFormed()) {
        parsedEffects.add(parsedEffect);
      } else {
        logger.warn(
            String.format(
                "Skipping malformed SnpEff effect field at %s:%d. Error was: \"%s\". Field was: \"%s\"",
                snpEffRecord.getChr(),
                snpEffRecord.getStart(),
                parsedEffect.getParseError(),
                effectString));
      }
    }

    return parsedEffects;
  }
Exemplo n.º 3
0
    public boolean isHigherImpactThan(SnpEffEffect other) {
      // If one effect is within a coding gene and the other is not, the effect that is
      // within the coding gene has higher impact:

      if (isCoding() && !other.isCoding()) {
        return true;
      } else if (!isCoding() && other.isCoding()) {
        return false;
      }

      // Otherwise, both effects are either in or not in a coding gene, so we compare the impacts
      // of the effects themselves. Effects with the same impact are tie-broken using the
      // functional class of the effect:

      if (impact.isHigherImpactThan(other.impact)) {
        return true;
      } else if (impact.isSameImpactAs(other.impact)) {
        return functionalClass.isHigherPriorityThan(other.functionalClass);
      }

      return false;
    }
Exemplo n.º 4
0
  @Override
  public Map<String, Object> annotate(
      final RefMetaDataTracker tracker,
      final AnnotatorCompatible walker,
      final ReferenceContext ref,
      final Map<String, AlignmentContext> stratifiedContexts,
      final VariantContext vc,
      final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {

    // Can not annotate if failed initialization conditions
    if (!canAnnotate) return null;

    RodBinding<VariantContext> snpEffRodBinding = walker.getSnpEffRodBinding();

    // Get only SnpEff records that start at this locus, not merely span it:
    List<VariantContext> snpEffRecords = tracker.getValues(snpEffRodBinding, ref.getLocus());

    // Within this set, look for a SnpEff record whose ref/alt alleles match the record to annotate.
    // If there is more than one such record, we only need to pick the first one, since the
    // biological
    // effects will be the same across all such records:
    VariantContext matchingRecord = getMatchingSnpEffRecord(snpEffRecords, vc);
    if (matchingRecord == null) {
      return null;
    }

    // Parse the SnpEff INFO field annotation from the matching record into individual effect
    // objects:
    List<SnpEffEffect> effects = parseSnpEffRecord(matchingRecord);
    if (effects.isEmpty()) {
      return null;
    }

    // Add only annotations for one of the most biologically-significant effects from this set:
    SnpEffEffect mostSignificantEffect = getMostSignificantEffect(effects);
    return mostSignificantEffect.getAnnotations();
  }