Identification of Rare Damaging Missense and Loss of Function Variants in GWAS Loci Using Genome Sequencing Data from Two Cohorts of Familial Late-Onset Alzheimer's Disease.

Tamil Iniyan GunasekaranDolly Reyes-DumeyerKelley M FaberAlison GoateBrad BoeveCruchaga CarlosMargaret Pericak-VanceJonathan L HainesRoger RosenbergDebby TsuangDiones Rivera MejiaMartin MedranoRafael A LantiguaRobert A SweetDavid A BennettRobert S WilsonTatiana ForoudBadri N VardarajanRichard P Mayeux

Published in: medRxiv : the preprint server for health sciences (2023)

Although rare variants were found in both family groups, many families had no gene variant segregating within the family, indicating that the genetic basis for AD has yet to be fully defined.

Keyphrases

copy number
late onset
genome wide
early onset
dna methylation
genome wide association study
single cell
cognitive decline
intellectual disability
gene expression
mild cognitive impairment