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Solving genetic disease at the population scale

I will discuss the latest advances in genome sequencing technology, and the approach to the $1000 genome, with a focus on the status of the new Ion Torrent Proton Platform and how this can be applied in a systematic way to solve genetic diseases for entire populations. For this, I will present a process that identifies and removes all the bottlenecks in deploying genomic personalized medicine for entire countries. Examples will be provided based on specific national efforts already underway, in the USA and globally, and I will discuss the requirements that make countries or regions good candidates for this approach, and the opportunities for such countries to begin or accelerate the process.

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Correspondence to Barry Merriman.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Merriman, B. Solving genetic disease at the population scale. BMC Genomics 15 (Suppl 2), O15 (2014).

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