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Trends Genet. 2013 Jan;29(1):23-30. doi: 10.1016/j.tig.2012.10.001. Epub 2012 Oct 25.

How next-generation sequencing is transforming complex disease genetics.

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Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.


Progress in understanding the genetics of human disease is closely tied to technological developments in DNA sequencing. Recently, next-generation technology has transformed the scale of sequencing; compared to the methods used in the Human Genome Project, modern sequencers are 50000-fold faster. Complex disease genetics presents an immediate opportunity to use this technology to move from approaches using only partial information (linkage and genome-wide association studies, GWAS) to complete analysis of the relationship between genomic variation and phenotype. We first describe sequence-based improvements to existing study designs, followed by prioritization of both samples and genomic regions to be sequenced, and then address the ultimate goal of analyzing thousands of whole-genome sequences. Finally, we discuss how the same technology will also fundamentally change the way we understand the biological mechanisms underlying disease associations discovered through sequencing.

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