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Accurate and exact CNV identification from targeted high-throughput sequence data

Accurate and exact CNV identification from targeted high-throughput sequence data. 出處： BMC Genomics 2011 報告人：嚴孝昇. OUTLINE. Background CNV MicroArray Methods & Results Conclusions. Background. CNV. Background. MicroArray. Background. Background.

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Accurate and exact CNV identification from targeted high-throughput sequence data

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  1. Accurate and exact CNV identification from targeted high-throughput sequence data 出處：BMC Genomics 2011 報告人：嚴孝昇

  2. OUTLINE • Background • CNV • MicroArray • Methods&Results • Conclusions

  3. Background • CNV

  4. Background • MicroArray

  5. Background

  6. Background Green – DNA from reference sample hybridized to target DNA Red – DNA from test sample hybridized to target DNA Yellow – DNA from both samples hybridized equally to target DNA

  7. Background

  8. Methods&Results • Methods

  9. Methods&Results

  10. Methods&Results • Results

  11. Methods&Results

  12. Methods&Results

  13. Methods&Results

  14. Methods&Results

  15. Conclusions • Estimate absolute copy • Robust, simple to implement

  16. Conclusions • 優點： • 方法易用，可利用已知資料進行驗證。 • 缺點： • 各家MicroArray晶片設計不同。 • 對未知基因序列斷點，僅能預測無法驗證。 • 對本人研究影響： • 可多方對CNV驗證。 • 可提出準確CNV位置供實驗驗證。

  17. THANK YOU

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