Article
Sequencing and phasing cancer mutations in lung cancers using a long-read portable sequencer.
DNA research : an international journal for rapid publication of reports on genes and genomes - 1 Dec 2017
Suzuki Ayako, Suzuki Mizuto, Mizushima-Sugano Junko, Frith Martin C, Makalowski Wojciech, Kohno Takashi, Sugano Sumio, Tsuchihara Katsuya, Suzuki Yutaka
Abstract excerpt
Here, we employed cDNA amplicon sequencing using a long-read portable sequencer, MinION, to characterize various types of mutations in cancer-related genes, namely, EGFR, KRAS, NRAS and NF1. For homozygous SNVs, the precision and recall rates were 87.5% and 91.3%, respectively. For previously reported hotspot mutations, the precision and recall rates reached 100%. The precise junctions of EML4-ALK, CCDC6-RET and...
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