Article
Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Nov 2024
Gunasekaran Tamil Iniyan, Reyes-Dumeyer Dolly, Faber Kelley M, Goate Alison, Boeve Brad, Cruchaga Carlos, Pericak-Vance Margaret, Haines Jonathan L, Rosenberg Roger, Tsuang Debby, Mejia Diones Rivera, Medrano Martin, Lantigua Rafael A, Sweet Robert A, Bennett David A, Wilson Robert S, Alba Camille, Dalgard Clifton, Foroud Tatiana, Vardarajan Badri N, Mayeux Richard
Abstract excerpt
BACKGROUND: Few rare variants have been identified in genetic loci from genome-wide association studies (GWAS) of Alzheimer's disease (AD), limiting understanding of mechanisms, risk assessment, and genetic counseling. METHODS: Using genome sequencing data from 197 families in the National Institute on Aging Alzheimer's Disease Family Based Study and 214 Caribbean Hispanic families, we searched for rare coding...
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