Targeted sequencing DNA analysis.

Genetic Testing Revolution: Targeted Sequencing for Faster, More Accurate Results

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Avery Sinclair in Health & Wellness December 2025 • 4 min read.

"Discover how targeted sequencing is streamlining genetic diagnostics, offering a cost-effective and efficient way to detect chromosome imbalances and single nucleotide variants."


Genetic variations are a key factor in human diversity and disease, making accurate detection crucial. Traditionally, methods like chromosomal microarray testing (CMA) have been used to identify copy number variations (CNVs) across the genome. While CMA has improved diagnostics, it only detects a fraction of genetic disorders, often leading to further, more complex testing.

The need for multiple tests adds time and cost, highlighting the demand for a more streamlined approach. High-throughput sequencing is emerging as a powerful solution, capable of detecting both CNVs and single nucleotide variants (SNVs) in a single test. This advancement marks a significant step towards comprehensive genetic diagnostics.

Targeted sequencing, a method that enriches specific genomic regions from a DNA sample, is rapidly gaining popularity. By focusing on areas of interest, this technique reduces sequencing costs and analysis time. Clinically focused exome sequencing, targeting the coding regions of the human genome, offers a particularly cost-effective approach to sequence investigation.

How Targeted Sequencing Improves Genetic Detection

Targeted sequencing DNA analysis.

Researchers have evaluated a targeted sequencing approach that combines a clinically focused exome panel with a backbone and SNP probes. This allows for the detection of genome-wide copy number changes and copy-neutral absence of heterozygosity (AOH), potentially replacing traditional chromosomal microarray testing and sequencing with a single, more efficient test.

To validate this approach, a panel of 16 DNA samples with known alterations, ranging from megabase-scale CNVs to single base modifications, were used. These samples served as positive controls for sequencing data analysis, ensuring the accuracy and reliability of the method.

  • The DNA panel included CNVs of varying sizes (23 Kb to 27 Mb).
  • Uniparental disomy (UPD).
  • Single point mutations.
The results demonstrated that the targeted sequencing platform successfully identified all DNA sequence changes, including CNVs as small as 23 Kb. The estimated size of genomic imbalances detected by this method was virtually the same as those detected by microarrays, indicating comparable resolution and sensitivity. The combination of focused exome and whole-genome backbone sequencing, along with appropriate algorithms, offers a cost-effective and efficient solution for simultaneous detection of CNVs and SNVs.

The Future of Genetic Testing with Targeted Sequencing

The study highlights the promising potential of targeted sequencing for CNV detection, achieving resolution and sensitivity similar to or even greater than microarrays. This advancement streamlines the study of chromosome abnormalities directly from DNA sequence data, reducing time and costs. It means that a single platform can be used to test a large amount of diseases.

As next-generation sequencing technologies continue to advance, sequencing data is poised to replace the combined use of traditional diagnostic methods like CMA and sequencing in clinical and research settings. This transition will bridge the resolution gap between CNVs detected by microarrays and indels identified by sequencing, enhancing our understanding of normal and pathogenic DNA copy number variations.

Targeted sequencing offers a practical and efficient approach, streamlining processes and enhancing the precision of genetic diagnoses. This will lead to easier implementation within clinical labs.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

Everything You Need To Know

1

How does targeted sequencing reduce the costs of genetic testing?

Targeted sequencing enriches specific regions of interest in the genome, reducing sequencing costs and analysis time. Clinically focused exome sequencing, targeting only the coding regions, makes the process cost-effective. By focusing on relevant areas, researchers can detect single nucleotide variants and copy number variations more efficiently than with whole-genome approaches.

2

What are the limitations of chromosomal microarray testing compared to targeted sequencing?

Traditional methods like chromosomal microarray testing primarily detect copy number variations but often miss single nucleotide variants and other more subtle genetic changes. Chromosomal microarray testing also has limitations in resolution and may require additional testing to fully characterize genetic disorders. Targeted sequencing offers a more comprehensive and efficient approach by detecting both copy number variations and single nucleotide variants in a single test.

3

How does targeted sequencing combine different techniques to improve genetic detection?

Targeted sequencing combines a clinically focused exome panel with backbone and SNP probes. This approach allows for the detection of both genome-wide copy number changes and copy-neutral absence of heterozygosity. By integrating these components, targeted sequencing can potentially replace traditional chromosomal microarray testing and sequencing with a single, more efficient test, improving diagnostic accuracy and reducing turnaround time.

4

How was targeted sequencing validated to ensure accuracy and reliability?

The validation of targeted sequencing used a panel of 16 DNA samples with known alterations, including copy number variations of varying sizes (23 Kb to 27 Mb), uniparental disomy, and single point mutations. These samples served as positive controls for sequencing data analysis, ensuring the accuracy and reliability of the method. The targeted sequencing platform successfully identified all DNA sequence changes, demonstrating its effectiveness in detecting a wide range of genetic alterations.

5

What are the long-term implications of using targeted sequencing in genetic diagnostics?

Targeted sequencing streamlines the study of chromosome abnormalities directly from DNA sequence data, reducing time and costs. It achieves resolution and sensitivity similar to or greater than microarrays. This is significant because a single platform can be used to test for a large number of diseases, improving diagnostic efficiency and accessibility. The ability to detect both copy number variations and single nucleotide variants simultaneously allows for a more comprehensive assessment of genetic disorders, leading to more accurate diagnoses and better patient care.

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