Related Experiment Video
Updated: May 28, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different
Haruya Sakai1, Shinichi Suzuki, Takeshi Mizuguchi
1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
Genetic analysis of non-syndromic aortic aneurysm and/or dissection (AAD) identified pathogenic variants in 4.3% of patients. This highlights the importance of genetic testing for non-syndromic cases.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Aortic aneurysm and/or dissection (AAD) is a serious condition often linked to specific genetic syndromes.
- Genetic factors in non-syndromic AAD cases are not fully understood.
- Identifying genetic underpinnings can improve diagnosis and risk stratification.
Purpose of the Study:
- To investigate the utility of genetic analysis in patients with non-syndromic AAD.
- To compare the effectiveness of resequencing array technology (ResAT) and next-generation sequencing (NGS) in detecting genetic variants.
- To identify potentially pathogenic variants in genes associated with syndromic AAD.
Main Methods:
- Analyzed eight genes associated with syndromic AAD in 70 patients with non-syndromic AAD.
- Employed both resequencing array technology (ResAT) and next-generation sequencing (NGS) for variant detection.
- Compared the variant detection capabilities and limitations of ResAT and NGS.
Main Results:
- Eighteen sequence variants were detected by both ResAT and NGS.
- ResAT uniquely identified one variant, while NGS identified two additional variants.
- Three likely pathogenic variants were found, present in 4.3% of all patients and 8.6% of thoracic AAD patients.
- ResAT efficiently detected nucleotide substitutions but missed insertions/deletions; NGS detected most mutation types but requires advanced bioinformatics.
Conclusions:
- Genetic analysis is crucial for diagnosing non-syndromic AAD.
- NGS offers broader mutation detection capabilities compared to ResAT for AAD-related genes.
- Further development of bioinformatics tools is needed to fully leverage NGS for AAD genetic studies.
More Related Videos
11:15Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Related Concept Videos
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
DNA Microarrays