Mrutyunjaya Parida

Benign-Ex identifies genome regions tolerant to copy number variation by integrating CNV databases, finding 41.1% and 37.6% of the genome benign using DGV and ClinGen respectively.

DISCRIMINATOR assigns provisional pathogenicity classifications to CNVs in a cohort, identifying common benign and primary CNVs and improving classification consistency.

This study shows that Akirin2 loss in excitatory cortical neurons leads to neurodegeneration via p53 activation, highlighting its role in neuronal maintenance and potential relevance to neurodegenerative diseases.