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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 Tanzi
Published 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.
Keyphrases
  • copy number
  • genome wide
  • genome wide association study
  • genome wide association
  • dna methylation
  • magnetic resonance
  • prefrontal cortex
  • computed tomography
  • brain injury