Machine Learning Reveals Thousands of DNA Changes

Unlike most cells in the rest of our body, the DNA in each of our brain cells is not the same: it varies from cell to cell, caused by somatic changes. This could explain many mysteries--from the cause of Alzheimer's disease and autism to how our personality develops. But much remains unknown, including when these changes arise, their size and locations and whether they are random or regulated. DNA technologies used to study these "copy number variations" (CNVs) in single brain cells have been limited to longer DNA sequences--those above one million base pairs. Now, scientists at Sanford Burnham Prebys Medical Discovery Institute have developed new single-cell analysis approaches wedded to machine learning, allowing the detection of CNVs smaller than one million base pairs.