Пример #1
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);
        }
Пример #2
0
        // ==============================================================
        // These calls are already mostly cached by FeatureVariantEffects
        // ==============================================================

        /// <summary>
        /// returns true if the variant ablates the transcript [VariationEffect.pm:262 feature_ablation]
        /// </summary>
        public bool HasTranscriptAblation()
        {
            return(_featureVariantEffects.Ablation());
        }