TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Abstract excerpt

Background: Accurate clinical variant interpretation depends on the transcript used for annotation and consequence assessment. Transcript-aware reasoning is also incorporated into existing ClinGen guidance for loss-of-function, splicing, functional and computational evidence and into gene- and disease-specific specification. However, limited guidance exists when unresolved transcript context warrants escalation...

Topics

• Humans
• Genetic Variation
• Computational Biology
• Molecular Sequence Annotation