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Imaging genomics: data fusion in uncovering disease heritability.

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.

SUBMITTER: Hartmann K

PROVIDER: S-EPMC10507799 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Imaging genomics: data fusion in uncovering disease heritability.

Hartmann Katherine K Sadée Christoph Y CY Satwah Ishan I Carrillo-Perez Francisco F Gevaert Olivier O

Trends in molecular medicine 20221202 2

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 ...[more]

PMID: 36470817

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