Targeted sequencing

Definition

Targeted sequencing is a genomic technique that focuses on sequencing specific regions of interest in the genome, rather than the entire genome. This method allows researchers to capture and analyze particular genes or genetic variants associated with diseases, which enhances the efficiency and cost-effectiveness of sequencing efforts compared to whole-genome sequencing.

5 Must Know Facts For Your Next Test

1. Targeted sequencing is often used in clinical settings to identify mutations in specific genes that are linked to cancer or genetic disorders.
2. This method can significantly reduce the amount of data generated, leading to faster analysis times and lower costs compared to whole-genome sequencing.
3. Targeted sequencing employs techniques like hybridization capture or amplicon-based methods to enrich for specific genomic regions before sequencing.
4. It is particularly valuable in research studies aimed at understanding the genetic basis of complex diseases by focusing on relevant genetic regions.
5. The accuracy and specificity of targeted sequencing make it a powerful tool for precision medicine, enabling tailored treatment strategies based on individual genetic profiles.

Review Questions

• How does targeted sequencing differ from whole-genome sequencing in terms of efficiency and application?
  • Targeted sequencing differs from whole-genome sequencing by concentrating on specific regions of the genome rather than analyzing the entire sequence. This focused approach makes it more efficient and cost-effective, especially when researchers are interested in certain genes or mutations related to specific diseases. Because it generates less data, targeted sequencing also allows for quicker analysis and interpretation, making it a preferred choice in clinical diagnostics where speed is crucial.
• Discuss the advantages of using panel testing within the context of targeted sequencing for genetic diagnosis.
  • Panel testing within targeted sequencing offers several advantages for genetic diagnosis. By analyzing a predetermined set of genes known to be associated with specific conditions, it enables clinicians to focus their diagnostic efforts on the most relevant areas. This not only enhances the likelihood of detecting pathogenic variants but also streamlines the process, reducing costs and time compared to whole-exome or whole-genome approaches. Moreover, panel testing provides clear clinical insights, facilitating timely decision-making in patient management.
• Evaluate the impact of bioinformatics on enhancing the results obtained from targeted sequencing technologies.
  • Bioinformatics plays a crucial role in enhancing the results obtained from targeted sequencing technologies by providing tools for data analysis, interpretation, and visualization. Given the complexity and volume of data generated from targeted sequencing, bioinformatics helps researchers filter out noise and focus on meaningful variants that may have clinical significance. Additionally, sophisticated algorithms can predict the functional impact of identified variants and integrate them with existing genomic databases. This not only improves the accuracy of variant interpretation but also facilitates advances in personalized medicine by correlating genetic findings with potential therapeutic targets.

Related terms

Exome sequencing: A technique that sequences all the protein-coding regions of the genome, known as exons, which represent about 1-2% of the entire genome but contain the majority of known disease-related variants.

Panel testing: A method that uses targeted sequencing to analyze a set panel of genes known to be associated with specific diseases, allowing for a focused approach in genetic testing.

Bioinformatics: The use of software tools and algorithms to analyze and interpret biological data, especially important in processing the large amounts of data generated from targeted sequencing.