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Peter Nagy, Columbia Agilent Symposium, Jan, 27 2012

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Peter L. Nagy MD, PhD; [email_address] ; PS12-420F Director, Personalized Genomic Medicine, Department of Pathology Capture Strategies for Nextgen Sequencing in Clinical Practice
Division of Personalized Genomic Medicine ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Our agenda ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Nextgene sequencing lab ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Roche ,[object Object]
Illumina ,[object Object]
Navigare necesse est ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Captura necesse est
General considerations for choosing the capture method ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Mitochondrial genome sequencing
[object Object],Mitochondrial genome amplification using traditional PCR 16566 16331 3729 3460 8753 9158 10 16494
Long range PCR alerts to heteroplasmic deletions
Raindance ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Raindance projects ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Raindance cardiomyopathy data Mean coverage: 71 Std Dev: 58
Illumina exome capture cardiomyopathy data Mean coverage: 50 Std Dev: 27
Fluidigm ,[object Object]
Fluidigm project ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Comparison of capture methods on the ABCA4 exons Illumina Exome capture Mean:110; STD:39 Fluidigm Mean:313; STD:207 Raindance Mean:159;STD:102
Agilent Sureselect custom capture Alzheimer panel data Mean coverage: 487 Std Dev: 185
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],TruSeq Custom Amplicon Sequencing for high throughput tests
Conclusion ,[object Object],[object Object],[object Object],[object Object]

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