NIH R01 · 2025
1. Project Summary De novo and ultra-rare copy-number variants (CNVs) often underlie the genetic etiology of pediatric and neurodevelopmental diseases. As such, CNVs provide opportunities to study critical dosage sensitive genes, as well timing and origin of structural variation formation (SV). SV results from distinct mutational mechanisms, including DNA recombination, replication, and repair-associated processes, each leaving specific genomic scars and identifiable signatures that can be accessed with appropriate sequencing methodologies. We and others have shown that DNA repair mechanisms, such as break-induced replication (BIR) and microhomology-mediated break-induced replication…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.