Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

Area of Science:

• Genomics
• Molecular Biology
• Bioinformatics

Background:

• Next-generation sequencing (NGS) has revolutionized molecular research by reducing costs and increasing DNA sequencing throughput.
• The flexibility of NGS enables diverse applications, including investigating the molecular underpinnings of human diseases.
• NGS technologies are increasingly integrated into routine molecular diagnostics.

Purpose of the Study:

• To provide an overview of prevalent NGS-based approaches for studying the molecular basis of human diseases at the DNA level.
• To discuss the primary challenges and applications of NGS within the field of human genomics.
• To highlight ongoing controversies and areas needing further development in NGS implementation.

Main Methods:

• Selective enrichment of genomic regions of interest.
• Identification of germline and somatic sequence variants.
• Analysis of DNA methylation patterns.

Main Results:

• NGS approaches are broadly applied in research for disease gene discovery and characterization.
• Established analytical methods facilitate the identification of genetic variations.
• DNA methylation studies are a significant application area for NGS.

Conclusions:

• NGS is a powerful tool for advancing human genomics research and diagnostics.
• Standardization of methods, data management, and ethical considerations are critical for the future of NGS.
• Continued development and discussion are necessary to fully leverage NGS capabilities in understanding human health and disease.