Imaging genomics: data fusion in uncovering disease heritability

Katherine Hartmann; Christoph Y Sadée; Ishan Satwah; Francisco Carrillo-Perez; Olivier Gevaert

doi:10.1016/j.molmed.2022.11.002

Imaging genomics: data fusion in uncovering disease heritability

Trends Mol Med. 2023 Feb;29(2):141-151. doi: 10.1016/j.molmed.2022.11.002. Epub 2022 Dec 2.

Authors

Katherine Hartmann¹, Christoph Y Sadée², Ishan Satwah³, Francisco Carrillo-Perez⁴, Olivier Gevaert⁵

Affiliations

¹ Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: katherine.hartmann@pennmedicine.upenn.edu.
² Stanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA, USA.
³ College of Medicine, Drexel University, Philadelphia, PA, USA.
⁴ Stanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA, USA; Department of Computer Architecture and Technology, University of Granada. C.I.T.I.C., Granada, Spain.
⁵ Stanford Center for Biomedical Informatics Research, Department of Medicine, Stanford University, Stanford, CA, USA. Electronic address: ogevaert@stanford.edu.

Abstract

Sequencing of the human genome in the early 2000s enabled probing of the genetic basis of disease on a scale previously unimaginable. Now, two decades later, after interrogating millions of markers in thousands of individuals, a significant portion of disease heritability still remains hidden. Recent efforts to unravel this 'missing heritability' have focused on garnering new insight from merging different data types, including medical imaging. Imaging offers promising intermediate phenotypes to bridge the gap between genetic variation and disease pathology. In this review we outline this fusion and provide examples of imaging genomics in a range of diseases, from oncology to cardiovascular and neurodegenerative disease. Finally, we discuss how ongoing revolutions in data science and sharing are primed to advance the field.

Keywords: GWAS; imaging genomics; missing heritability; radiogenomics.

Publication types

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

MeSH terms

Genetic Predisposition to Disease
Genetic Variation*
Genome-Wide Association Study
Humans
Imaging Genomics
Neurodegenerative Diseases*
Phenotype

Grants and funding

R01 CA260271/CA/NCI NIH HHS/United States