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CNV identification from targeted high- throughput sequence data 出出BMC Genomics 2011 出出出 出出出

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

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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. - PowerPoint PPT Presentation

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Page 1: 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

Page 2: Accurate and exact CNV identification from targeted high-throughput sequence data

OUTLINE

Background CNV MicroArray

Methods & Results Conclusions

Page 3: Accurate and exact CNV identification from targeted high-throughput sequence data

Background

CNV

Page 4: Accurate and exact CNV identification from targeted high-throughput sequence data

Background

MicroArray

Page 5: Accurate and exact CNV identification from targeted high-throughput sequence data

Background

Page 6: Accurate and exact CNV identification from targeted high-throughput sequence data

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

Page 7: Accurate and exact CNV identification from targeted high-throughput sequence data

Background

Page 8: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Methods

Page 9: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Page 10: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Results

Page 11: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Page 12: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Page 13: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Page 14: Accurate and exact CNV identification from targeted high-throughput sequence data

Methods & Results

Page 15: Accurate and exact CNV identification from targeted high-throughput sequence data

Conclusions

Estimate absolute copy Robust, simple to implement

Page 16: Accurate and exact CNV identification from targeted high-throughput sequence data

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。

Page 17: Accurate and exact CNV identification from targeted high-throughput sequence data

THANK YOU