A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach

Genetic Testing and Molecular Biomarkers
Wenxue TangXi Lin


Current major barriers for using next-generation sequencing (NGS) technologies in genetic mutation screening on an epidemiological scale appear to be the high accuracy demanded by clinical applications and high per-sample cost. How to achieve high efficiency in enriching targeted disease genes while keeping a low cost/sample is a key technical hurdle to overcome. We validated a cDNA-probe-based approach for capturing exons of a group of genes known to cause deafness. Polymerase chain reaction amplicons were made from cDNA clones of the targeted genes and used as bait probes in hybridization for capturing human genomic DNA (gDNA) fragments. The cDNA library containing the clones of targeted genes provided a readily available, low-cost, and regenerable source for producing capture probes with standard molecular biology equipment. Captured gDNA fragments by our method were sequenced by the Illumina NGS platform. Results demonstrated that targeted exons captured by our approach achieved specificity, multiplexicity, uniformity, and depth of coverage suitable for accurate sequencing applications by the NGS systems. Reliable genotype calls for various homozygous and heterozygous mutations were achieved. The results were confirmed inde...Continue Reading


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Related Concepts

Nucleic Acid Hybridization Procedure
Genetic Screening Method
Polymerase Chain Reaction Analysis
Massively-Parallel Sequencing
Genomic DNA
Sequence Determinations, DNA
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High-Throughput Nucleotide Sequencing

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