AD Genomics Manuscripts
Note: The ADSP was an author on this paper.
Using the ADSP dataset, the goal was to identify the frequency and impact of rare and ultra‐rare variants in Alzheimer's disease, using whole‐exome sequencing in 20,197 individuals.
They identified 19 cases carrying extremely rare SORL1 loss‐of‐function variants among a collection of 6,965 cases and a single loss‐of‐function variant among 13,252 controls (P = 2e10−8; OR: 36.2 [95% CI: 5.8–1493.0]). Age‐at‐onset was 7 years earlier for patients with SORL1 qualifying variant compared with noncarriers.