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 Kirchnernull nullSandeep AmberkarInken WohlersChristoph LangeWinston HideLars BertramRudolph E TanziPublished in: Alzheimer's & dementia : the journal of the Alzheimer's Association (2021)
Downstream analyses of these novel loci highlight synaptic function, in contrast to common AD-associated variants, which implicate innate immunity and amyloid processing. These loci have not been associated previously with AD, emphasizing the ability of WGS to identify AD-associated rare variants, particularly outside of the exome.