Summary Summary Short summary of a recent publication, written by scientific experts. Published: Dec 26, 2019

Critical exon indexing enhances analysis of copy number variants in neurodevelopmental disorders

Takeaway

  • Applying critical exon indexing to copy number variants can help to identify clinically relevant genes in neurodevelopmental disorders.

Why this matters

    Variants of unknown significance remain a major challenge in clinical analysis. Using this novel tool could enable the classification of these unknown variants and improve both diagnosis and management of numerous neurodevelopmental disorders.