Evaluating the performance of low-frequency variant calling tools for the detection of variants from short-read deep sequencing data.

Abstract excerpt

Detection of low-frequency variants with high accuracy plays an important role in biomedical research and clinical practice. However, it is challenging to do so with next-generation sequencing (NGS) approaches due to the high error rates of NGS. To accurately distinguish low-level true variants from these errors, many statistical variants calling tools for calling low-frequency variants have been proposed, but a...

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• Algorithms
• Biomedical Research
• Gene Frequency
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide