Gene,Transcript & Technical Information
Understanding Genetic Constraints
Last Updated: October 11, 2025Overview Genetic constraint describes how tolerant a gene is to changes (mutations) in its DNA sequence.Genes that are highly constrained show far fewer variants than expected in healthy populations, indicating that changes in these genes are often deleterious and may cause disease. On the SeqSMART platform, gene-level constraint data helps users understand each gene’s biological...
Computational Predictive Data
Last Updated: October 11, 2025Overview Computational prediction tools estimate the potential functional impact of genetic variants by integrating evolutionary, structural, and biochemical information.While some predictions are directly used for ACMG classification (e.g., PP3/BP4 via REVEL, CADD, and SpliceAI), SeqSMART also visualizes a broad set of additional predictors to give users a comprehensive view of variant behavior across different analytical...