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- W2098005556 abstract "Leukemia is the result of accumulation of somatic mutations including point mutations, copy number variations, and chromosomal abnormalities. Since multiple mutations can be present in a given leukemia genome, a technology that can detect many mutations in different genes simultaneously is desirable. Next generation sequencing (NGS) technologies allow deep sequencing of numerous mutations and multiple samples at the same time. Among NGS technologies, targeted sequencing is appealing in clinical oncology due to its shorter turnaround time, lower costs, and simpler data analysis compared to whole genome or whole exome sequencing. We introduce here a new panel specific for leukemia using multiplex PCR followed by ion semiconductor deep sequencing technologies. The leukemia panel covers 48 genes and can detect over 3,200 leukemia-associated mutations, many of which are clinically actionable mutations. Twenty-five samples were used to validate the panel on different sample types, including blood, bone marrow, FFPE and cell free DNA. The uniformity of coverage was about 87.75% for all cases. The average depth of coverage for targeted region was more than 3000X and the mean 100X coverage of targeted mutations was 97.07%. The mutation panel detected mutations in NPM1, TP53, ABL1, JAK3, IDH1, IDH2, KRAS etc in these samples with as little as 20 ng DNA and the positive rate was about 56%. The most commonly mutated genes were: TP53 (7 cases) followed by CEBPA (3 cases), NPM1 (3 cases). Overall, the leukemia panel showed improved coverage uniformity, reading length and depth compared to certain commercially available kits. The turnaround time for the test can be as short as 3 to 5 days, which fits the needs of personalized oncology. Furthermore, samples can be multiplexed using barcoding, which leads to tremendous increase of sequencing efficiency and decrease of cost while maintaining the high quality of sequencing results." @default.
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- W2098005556 date "2013-05-01" @default.
- W2098005556 modified "2023-10-16" @default.
- W2098005556 title "Massive Parallel Sequencing of Leukemia Samples Using a Custom Designed Cancer Gene Mutation Panel" @default.
- W2098005556 doi "https://doi.org/10.1016/j.cancergen.2013.05.003" @default.
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