Alzheimer’s disease is still poorly understood despite its huge costs and burden. Greg Carter is working at the intersection between patient and mouse research to develop accurate disease models and develop effective therapies.
Structural variants, or SVs, are large DNA sequences that are inserted, inverted, deleted or duplicated within genomes. Finding SVs with short-read seq and analysis methods is difficult, but a new SV identification tool, FusorSV, sets a gold standard for SV detection and analysis.
It's been 15 years since the first human genome sequence was published, and with it launched a decade and a half of human genetics and genomics inquiry that has brought amazing progress — and perhaps an equal amount of frustration. Where do we go from here?