HGM 2011 - Dubai, UAE
George Church - Abstract
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George Church |
The human genome draft completed in 2004 (at 8-fold coverage) was a milestone, but at $3 billion it was not applicable to routine research or diagnostics. Expensive "common variant" association studies also generally failed to produce highly predictive and actionable diagnostics. Since 2004, we have pushed the cost of sequencing down by over a million-fold to $2K cost ($7K price) per 40-fold genome today[1]. This also enables time-series studies of epigenomic and immunogenomic responses to cancers, microbes, allergens, vaccines, etc. Sharing saliva, skin, blood and stem cells and associated genome, environment and trait (GET) data greatly enables commercial and academic research, open-source software and data for interpreting whole and partial genome sequences [2] as well as community tools for diverse phenomics. As the utility of cells, genes, and traits increases, insights come from highly integrative approaches - evaluating individuals in cohorts holistically and computationally, often from outside the clinical specialty of the study, e.g. computer scientists, systems biologists, or educational communities. Progress has been made by consenting volunteers with the understanding of open-access [3] (including tests of comprehension of the consenting materials). Technologies for analysis of single-chromosome haplotypes and single-cell epigenomics include dilution libraries and in situ sequencing. |
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Sheikh Hamdan Bin Rashid Al Maktoum |
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Human Genome Organisation |
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Centre for Arab Genomic Studies |
