Analysis of exomes from Alzheimer's disease-affected cousin pairs identifies rare candidate variants for this type of dementia.
Why this matters
Analysis of sequence data in high-risk pedigrees is needed to enable the detection of rare predisposition variants.
This important study supports rare variant prioritization through pedigree-based analyses and provides further evidence for the role of ABCA7 and TTR in Alzheimer's disease risk.
These analyses also identify other rare variants which may contribute to Alzheimer's disease risk; identifying individuals at increased risk would allow for earlier and more effective interventions.