NCBoost v2: a classifier for non-coding single nucleotide variants in Mendelian diseases

Key Points

• To develop NCBoost v2, a classifier targeted at identifying non-coding single nucleotide variants associated with Mendelian diseases.
• Developed a classification algorithm based on genetic data.
• Focused on non-coding regions of the genome.
• Utilized bioinformatics tools for data analysis.
• NCBoost v2 shows improved accuracy in classifying variants compared to previous models.
• Effectiveness noted for a variety of Mendelian disease contexts.