Humphrey Lab

Genetics of Neurodegeneration

Artificial intelligence for dementia genetics and omics


Journal article


C. Bettencourt, Nathan G. Skene, S. Bandres-Ciga, Emma Anderson, L. Winchester, I. Foote, Jeremy Schwartzentruber, J. Botía, M. Nalls, A. Singleton, B. Schilder, J. Humphrey, Sarah J. Marzi, Christina E. Toomey, Ahmad Al Kleifat, E. Harshfield, V. Garfield, C. Sandor, Samuel Keat, S. Tamburin, C. S. Frigerio, I. Lourida, J. Ranson, D. Llewellyn
Alzheimer's & Dementia, 2023

Semantic Scholar DOI PubMed
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APA   Click to copy
Bettencourt, C., Skene, N. G., Bandres-Ciga, S., Anderson, E., Winchester, L., Foote, I., … Llewellyn, D. (2023). Artificial intelligence for dementia genetics and omics. Alzheimer's &Amp; Dementia.


Chicago/Turabian   Click to copy
Bettencourt, C., Nathan G. Skene, S. Bandres-Ciga, Emma Anderson, L. Winchester, I. Foote, Jeremy Schwartzentruber, et al. “Artificial Intelligence for Dementia Genetics and Omics.” Alzheimer's & Dementia (2023).


MLA   Click to copy
Bettencourt, C., et al. “Artificial Intelligence for Dementia Genetics and Omics.” Alzheimer's &Amp; Dementia, 2023.


BibTeX   Click to copy

@article{c2023a,
  title = {Artificial intelligence for dementia genetics and omics},
  year = {2023},
  journal = {Alzheimer's & Dementia},
  author = {Bettencourt, C. and Skene, Nathan G. and Bandres-Ciga, S. and Anderson, Emma and Winchester, L. and Foote, I. and Schwartzentruber, Jeremy and Botía, J. and Nalls, M. and Singleton, A. and Schilder, B. and Humphrey, J. and Marzi, Sarah J. and Toomey, Christina E. and Kleifat, Ahmad Al and Harshfield, E. and Garfield, V. and Sandor, C. and Keat, Samuel and Tamburin, S. and Frigerio, C. S. and Lourida, I. and Ranson, J. and Llewellyn, D.}
}

Abstract

Genetics and omics studies of Alzheimer's disease and other dementia subtypes enhance our understanding of underlying mechanisms and pathways that can be targeted. We identified key remaining challenges: First, can we enhance genetic studies to address missing heritability? Can we identify reproducible omics signatures that differentiate between dementia subtypes? Can high‐dimensional omics data identify improved biomarkers? How can genetics inform our understanding of causal status of dementia risk factors? And which biological processes are altered by dementia‐related genetic variation? Artificial intelligence (AI) and machine learning approaches give us powerful new tools in helping us to tackle these challenges, and we review possible solutions and examples of best practice. However, their limitations also need to be considered, as well as the need for coordinated multidisciplinary research and diverse deeply phenotyped cohorts. Ultimately AI approaches improve our ability to interrogate genetics and omics data for precision dementia medicine.