文献_3-Complete Genomics Advanced Genome Sequencing Technologies.pdfVIP

文献_3-Complete Genomics Advanced Genome Sequencing Technologies.pdf

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Complete Genomics Advanced Genome Sequencing Technologies Rade Drmanac Ph.D. Co-Founder and Chief Scientific Officer of Complete Genomics Senior VP of BGI © 2012 Complete Genomics, Inc. Why is Individual Whole Genome Sequencing (WGS) so Fundamental? Genome is: •Ultimate (deepest) genetic level; includes recent family and de- novo variants •Predictive (sufficiently) of our future body and mind functioning, i.e. genome encodes a feedback-loops based program for development and adaptive-functioning of all our tissues; enables an early pre-symptomatic baseline test; •“Modifiable” through personalized interventions (food/drugs/cells/genes for disease/aging prevention/therapy) Limitations of genome-base predictions: Impact of environmental and stochastic factors (including “epigenetic lock-in”) © 2012 Complete Genomics, Inc. 2 How Many Human Genomes Do We Need to Sequence? Number of Sequenced Impact Genomes • Understanding molecular and genetic bases of a) thousands of human diseases b) all other phenotypes 1,000,000s • Developing better targeted drugs and other therapies including for disease prevention • Developing software for individual genome interpretation • Genomics-based personalized medicine 1,000,000,000s • Improving health and disease treatments • Genomics-based personalized way of living © 2012 Complete Genomics, Inc. 3 Origins of massively parallel DN

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