Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.
Dmitry ProkopenkoSarah L MorganKristina MullinOliver HofmannBrad ChapmanRory KirchnerSandeep AmberkarInken WohlersChristoph LangeWinston HideLars BertramRudolph E TanziPublished in: medRxiv : the preprint server for health sciences (2020)
Downstream analyses of these novel loci highlight synaptic function, in contrast to common AD-associated variants, which implicate innate immunity. These loci have not been previously associated with AD, emphasizing the ability of WGS to identify AD-associated rare variants, particularly outside of coding regions.