Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
In this study, we conducted in-depth analyses to evaluate the power of different sequencing technologies, including long-read and short-read whole [...]
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Recurrent and reciprocal copy number variations (CNVs) pose a substantial risk for neurodevelopmental and neuropsychiatric disorders. One example of such [...]
Introducing Dr. Ryan Collins!
Introducing Dr. Ryan Collins! Ryan recently received his PhD from Harvard’s Bioinformatics and Integrative Genomics program. His thesis, The Landscape and [...]
A cross-disorder dosage sensitivity map of the human genome
Large copy number variants (CNVs)—deletions or duplications of more than 100,000 DNA nucleotides—are collectively one of the strongest risk factors [...]