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Updated: Jul 17, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Applying genomics to the study of complex disease
Brian D Juran1, Konstantinos N Lazaridis
1Division of Gastroenterology and Hepatology, Center for Basic Research in Digestive Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Understanding complex liver diseases requires integrating genomics, environment, and epigenetics. This approach is key for better prediction, diagnostics, and treatment of conditions like gallstones and liver cancer.
Area of Science:
- Genomics and Medicine
- Hepatology
- Complex Human Diseases
Background:
- Growing interest in genetic and environmental factors of complex diseases.
- Need for improved understanding of liver disease pathogenesis (gallstones, NAFLD, viral hepatitis, HCC).
Purpose of the Study:
- To address the challenges in elucidating complex hepatic diseases from a genomic perspective.
- To highlight the necessity of novel frameworks and interdisciplinary collaboration.
Main Methods:
- Integrated analysis of genomic, transcriptional, and translational aspects.
- Focus on dissecting genetic and environmental contributions.
Main Results:
- Elucidating complex hepatic diseases is challenging due to genomic complexity, heterogeneity, environmental influences, and epigenetics.
- Novel conceptual frameworks and interdisciplinary efforts are essential.
Conclusions:
- Integrated deciphering of genomic, transcriptional, and translational factors is crucial.
- This approach will enhance prediction, diagnostics, and treatment of complex liver diseases.
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