The Role of Artificial Intelligence in Identifying NF1 Gene Variants and Improving Diagnosis.

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, typically diagnosed during early childhood and characterized by significant phenotypic heterogeneity. Despite advancements in next-generation sequencing (NGS), the diagnostic process remains challenging due to the gene's complexity, high mutational burden, and frequent identification of variants of uncertain...

Topics

• Humans
• Neurofibromatosis 1
• Artificial Intelligence
• Neurofibromin 1
• Mutation
• High-Throughput Nucleotide Sequencing