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Updated: Jul 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Bioinformatics and genomics for opening new perspective for personalized care
1School of Biomedical Sciences, Tokyo Medical and Dental University, Tokyo, Japan. tanaka@cim.tmd.ac.jp
Genomics and bioinformatics advance personalized care through three generations, from germline DNA to complex disease pathways. This evolution enables tailored treatments and better disease understanding.
Area of Science:
- Genomics
- Bioinformatics
- Personalized Medicine
Background:
- The integration of genomics and bioinformatics offers a novel approach to personalized care.
- The concept of genome/omics-based personalized care has evolved significantly with technological advancements.
Purpose of the Study:
- To describe the evolution of genome/omics-based personalized care through its three generations.
- To highlight the potential of personalized care driven by genomic and bioinformatics data.
Main Methods:
- Analysis of the evolution of personalized care strategies.
- Categorization of personalized care into three distinct generations based on data types and complexity.
Main Results:
- First generation: Personalized care based on germline genome sequence polymorphism (e.g., pharmacogenetics, disease risk prediction).
- Second generation: Personalized care utilizing omics data from somatic cells for disease classification, diagnosis, and prognosis.
- Third generation: Personalized care focused on systems-level understanding of complex diseases and pathways.
Conclusions:
- Genome/omics-based personalized care has progressed through distinct generational stages.
- Future personalized care will likely involve a holistic, system-level understanding of complex diseases.
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