| Summary: | 碩士 === 逢甲大學 === 統計學系統計與精算碩士班 === 106 === Next generation sequencing is a primary technology for genome research. Sequencing for exome is an efficient strategy to detect copy number variations. Many bioinformatics tools have developed for identifying copy number variations via exome sequencing. However, the different analytic unit - window sizes are adopted for each tool. In this study, three famous tools, ExomeCNV, ExomeDepth and exomeCopy, are used to evaluate the effect of window size. The performance is compared using both simulations and real data from 1000 genome project.
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