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Updated: Nov 5, 2025
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Implementation of a next-generation sequencing-based targeted approach for full-length CYP3A4 gene sequencing
Agnija Kivrane1,2, Viktorija Igumnova1,2, Janis Kimsis1
1Latvian Biomedical Research and Study Centre, Ratsupites Street 1, k-1, Riga, LV1067, Latvia.
Abstract:
Aim: To evaluate the application of next-generation sequencing-based targeted protocol for full-length CYP3A4 gene sequencing analysis. Materials & methods: The developed sequencing protocol was applied to analyze human DNA samples (n = 7) obtained from tuberculosis patients admitted to the Riga East University Hospital, Center of Tuberculosis and Lung diseases. Results: The sequencing data quality was sufficient for the detection of already known genetic variants, as well as for identifying rare and novel variants dispersed throughout the CYP3A4 gene with a high degree of confidence. Conclusion: Developed protocol can be applied in subpopulation level association studies to determine whether specific genetic variants or variant combinations from multiple regions of the CYP3A4 gene are of clinical significance.
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