Example #1
0
        /// <summary>
        /// constructor
        /// </summary>
        public VariantEffect(TranscriptAnnotation ta, Transcript transcript, VariantType internalCopyNumberType = VariantType.unknown)
        {
            _ta         = ta;
            _transcript = transcript;
            _altAllele  = ta.AlternateAllele;

            _preCache = new BasicVariantEffects(ta);

            _cache     = new VariantEffectCache();
            _tempCache = new TempVariantEffectCache();

            _featureVariantEffects = new FeatureVariantEffects(transcript, _altAllele.NirvanaVariantType,
                                                               _altAllele.Start, _altAllele.End, _altAllele.IsStructuralVariant, internalCopyNumberType);
        }
Example #2
0
        /// <summary>
        /// determines the regulatory region variant's functional consequence
        /// </summary>
        public void DetermineRegulatoryVariantEffects(ReferenceAnnotationInterval feature, VariantType vt, int refBegin, int refEnd, bool isSv, VariantType internalCopyNumberType)
        {
            var regulatoryVariantEffects = new FeatureVariantEffects(feature, vt, refBegin, refEnd, isSv, internalCopyNumberType);

            // RegulatoryRegionAmplification
            if (regulatoryVariantEffects.Amplification())
            {
                _consequences.Add(ConsequenceType.RegulatoryRegionAmplification);
            }

            // RegulatoryRegionAblation
            if (regulatoryVariantEffects.Ablation())
            {
                _consequences.Add(ConsequenceType.RegulatoryRegionAblation);
            }

            // RegulatoryRegionVariant
            _consequences.Add(ConsequenceType.RegulatoryRegionVariant);
        }