Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Simon HsuBrian A GordonRuss HornbeckJoanne B NortonDenise LevitchAdia LoudenEllen ZiegemeierRobert LaforceJasmeer ChhatwalGregory S DayEric McDadeJohn C MorrisAnne M FaganTammie L S BenzingerAlison M GoateCarlos CruchagaRandall J Batemannull nullCeleste M Karch

Published in: Alzheimer's research & therapy (2018)

In defining a subset of these variants as pathogenic, individuals from these families can now be enrolled in observational and clinical trials. This study outlines a critical approach for translating genetic data into meaningful clinical outcomes.

Keyphrases

clinical trial
copy number
small molecule
electronic health record
cognitive decline
genome wide
high throughput
randomized controlled trial
big data
phase ii
single cell
artificial intelligence
data analysis
phase iii