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Low-frequency SNV identification software tools | Whole-genome sequencing data analysis

Accurate identification of low-frequency somatic point mutations in tumor samples has important clinical utilities. Although high-throughput sequencing technology enables capturing such variants while sequencing primary tumor samples, our ability for accurate detection is compromised when the variant frequency is close to the sequencer error rate. Most current experimental and bioinformatic strategies target mutations with >/=5% allele frequency, which limits our ability to understand the cancer etiology and tumor evolution.

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