Discovery of a new class of complex genomic variation that is remarkably common

In a recently published manuscript, we demonstrated the potential impact of complex and cryptic chromosomal abnormalities in children with early onset neuropsychiatric disorders. In this study, we find that the mainstay of genetic testing for prenatal and pediatric developmental anomalies of unknown etiology, clinical microarray to detect copy number variants (CNVs), is insufficient to detect [...]

Evaluating the range of effects from new genome editing techniques

In two papers published in Cell Stem Cell in 2014, we demonstrated the genomic consequences of CRISPR/Cas9 genome editing technology, both at the targeted site of alteration and through genome-wide analyses to identify unintended mutagenesis through off-target effects. In both studies, our analyses suggest that the off-target effects of CRISPR/Cas9 are minimal, and that the [...]