Computational analysis and classification of Variants of Unknown Significance (VUS) in the BCS1L gene associated with Björnstad Syndrome. Implements a conservation score-based algorithm using BLASTp homologous sequences, MUSCLE alignment, and phylogenetic analysis to classify variants as pathogenic or benign.
python bioinformatics computational-biology phylogenetics pathogenicity variant-analysis blastp rare-disease bsc1l bjornstad-syndrome conservation-score vus-classification
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Updated
Mar 10, 2026