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Updated: May 26, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing
Xiaoming Wei1, Xiangchun Ju, Xin Yi
1Beijing Genomics Institute at Shenzhen, Shenzhen, China.
Plos One
|January 5, 2012
Summary
This study introduces Targeted DNA-HiSeq, a cost-effective method for identifying gene variants in genetic diseases. The technology accurately detects known and novel mutations, aiding in disease diagnosis and research.
Area of Science:
- Genomics
- Molecular Biology
- Genetic Diagnostics
Background:
- Gene variant identification is crucial for genetic disease research and diagnosis.
- Targeted gene enrichment combined with next-generation sequencing offers high efficiency and low cost for sequencing specific genes.
Purpose of the Study:
- To develop and evaluate a novel array-based gene chip for capturing exons of genes associated with 103 genetic diseases.
- To assess the efficacy of Targeted DNA-HiSeq technology in identifying known and novel mutations in patient samples.
Main Methods:
- Designed an array-based gene chip targeting 193 genes involved in 103 genetic diseases.
- Utilized Targeted DNA-HiSeq technology on 7 patient samples and 100 control samples.
- Confirmed findings using Sanger sequencing and real-time PCR.
Main Results:
- Achieved 99.14% detection of exons with >30-fold coverage.
- Identified six known variants in four genes and two novel mutations (STS, FBN1).
- Detected one exon deletion mutation in the DMD gene.
Conclusions:
- Targeted DNA-HiSeq demonstrates high selectivity and improves mutation detection, including novel variants and indel data.
- This method is suitable for analyzing gene variant profiles in monogenic diseases with high sensitivity, fidelity, throughput, and speed.
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