Novel methods for integration and visualization of genomics and genetics data in Alzheimer's disease

Alzheimers Dement. 2019 Jun;15(6):788-798. doi: 10.1016/j.jalz.2019.01.011. Epub 2019 Mar 29.


Introduction: Numerous omics studies have been conducted to understand the molecular networks involved in Alzheimer's disease (AD), but the pathophysiology is still not completely understood; new approaches that enable neuroscientists to better interpret the results of omics analysis are required.

Methods: We have developed advanced methods to analyze and visualize publicly-available genomics and genetics data. The tools include a composite clinical-neuropathological score for defining AD, gene expression maps in the brain, and networks integrating omics data to understand the impact of polymorphisms on AD pathways.

Results: We have analyzed over 50 public human gene expression data sets, spanning 19 different brain regions and encompassing three separate cohorts. We integrated genome-wide association studies with expression data to identify important genes in the pathophysiology of AD, which provides further insight into the calcium signaling and calcineurin pathways.

Discussion: Biologists can use these freely-available tools to obtain a comprehensive, information-rich view of the pathways in AD.

Keywords: Alzheimer's disease; Calcineurin; Calcium signaling pathway; Data visualization; Genomics; PTK2B; TOMM40.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Brain / pathology*
  • Calcineurin
  • Calcium Signaling
  • Focal Adhesion Kinase 2 / genetics
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Genomics*
  • Humans
  • Longitudinal Studies
  • Membrane Transport Proteins / genetics
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Polymorphism, Single Nucleotide


  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TOMM40 protein, human
  • Focal Adhesion Kinase 2
  • PTK2B protein, human
  • Calcineurin