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Updated: Dec 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Bioinformatics Methods in Medical Genetics and Genomics.
Yuriy L Orlov1,2,3, Ancha V Baranova4,5, Tatiana V Tatarinova6,7
1The Digital Health Institute, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia.
This study highlights advanced bioinformatics tools for medical genomics, analyzing complex data like genomics and proteomics. These computational methods aid in discovering drug targets for cancer and advancing medical research through systems biology approaches.
Area of Science:
- Computational Biology and Bioinformatics
- Genomics and Transcriptomics
- Proteomics and Systems Biology
Background:
- This special issue features research presented at the "Centenary of Human Population Genetics" Conference-2019 and the "Systems Biology and Bioinformatics"-2019 (SBB-2019) Young Scientists School.
- It focuses on recent developments in computational methods applied to medical genetics problems, utilizing genomics, transcriptomics, and proteomics data.
Discussion:
- The presented research explores gene networks, protein-protein interactions, and biomedical literature mining.
- Methods discussed include systems biology approaches and database mining, emphasizing their application in medical genetics.
Key Insights:
- Novel bioinformatics tools are crucial for dissecting complex molecular mechanisms in gene expression.
- Computational methods are effective in drug target discovery for cancer and advancing personalized medicine.
- Integration of multi-omics data (genomics, transcriptomics, proteomics) provides a comprehensive understanding of diseases.
Outlook:
- Continued development and application of bioinformatics tools will accelerate drug discovery and digitalization in medical research.
- Future research will likely focus on refining systems biology models for more accurate disease prediction and treatment strategies.
- Cross-disciplinary collaboration between computational biologists, geneticists, and clinicians is essential for translating research findings into clinical practice.
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