Targeted sequencing

Definition

Targeted sequencing is a method that focuses on specific areas of the genome to obtain detailed information about particular genes or regions of interest. This approach is efficient and cost-effective, as it selectively sequences predefined genomic regions rather than the entire genome or exome. By concentrating on specific targets, researchers can gather relevant data that may be associated with certain diseases or traits, making it a valuable tool in both clinical and research settings.

5 Must Know Facts For Your Next Test

1. Targeted sequencing is often used in clinical diagnostics to identify mutations linked to specific genetic disorders.
2. This approach can significantly reduce the amount of data generated compared to whole-genome sequencing, facilitating quicker analysis and interpretation.
3. Targeted panels can be designed to focus on multiple genes simultaneously, allowing for comprehensive testing of genetic conditions associated with those genes.
4. Due to its specificity, targeted sequencing often requires less DNA input than whole-genome sequencing, making it useful for samples with limited quantity.
5. Targeted sequencing can improve variant detection accuracy by reducing background noise from non-targeted regions of the genome.

Review Questions

• How does targeted sequencing differ from whole-genome and exome sequencing in terms of data output and analysis?
  • Targeted sequencing differs from whole-genome and exome sequencing primarily in its focus on specific genomic regions rather than capturing all genetic data. Whole-genome sequencing provides a complete overview of an organism's genome, generating vast amounts of data that require extensive analysis. Exome sequencing focuses only on coding regions, which still results in significant data but less than whole-genome. In contrast, targeted sequencing generates much smaller datasets by concentrating solely on predefined areas of interest, allowing for more streamlined analysis and quicker identification of relevant variants.
• Discuss the advantages and limitations of using targeted sequencing in clinical diagnostics compared to exome or whole-genome sequencing.
  • The advantages of targeted sequencing in clinical diagnostics include its cost-effectiveness, speed, and reduced complexity in data analysis. By focusing on specific genes associated with certain diseases, it allows for quicker identification of mutations relevant to patient care. However, its limitation lies in the potential for missing important variants outside the targeted regions that could contribute to a patient's condition. In comparison, while exome and whole-genome sequencing provide broader insights into genetic variation, they also generate larger datasets that can be more challenging to interpret clinically.
• Evaluate the impact of targeted sequencing on the advancement of personalized medicine and its potential future implications.
  • Targeted sequencing has significantly advanced personalized medicine by enabling tailored treatment strategies based on an individual's genetic profile. By identifying specific mutations linked to diseases, healthcare providers can select more effective therapies for patients. As technology continues to improve and costs decrease, targeted sequencing could become more widely adopted in routine clinical practice. Future implications may include the development of more refined gene panels targeting emerging biomarkers, further enhancing our ability to predict disease risk and response to treatment in a personalized manner.

Related terms

Whole-genome sequencing: A comprehensive method that sequences the entire genome of an organism, providing a complete picture of genetic variation across all chromosomes.

Exome sequencing: A technique that sequences only the coding regions of genes, known as exons, which represent a small portion of the genome but contain most known disease-related variants.

Next-generation sequencing (NGS): A high-throughput method that allows for rapid sequencing of large amounts of DNA, making it possible to perform targeted, exome, or whole-genome sequencing efficiently.