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Understanding the phenotypic impact of non-coding sequence variation

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Molecular phenotypes are important phenotypes that informs about genetic and environmental effects on cellular state. The elucidation of the genetics of gene expression and other cellular phenotypes are highly informative of the impact of genetic variants in the cell and the subsequent consequences in the organism. In this talk, I will discuss recent advances in three key areas of the analysis of the genomics of gene expression and cellular phenotypes in human populations and multiple tissues and how this assists in the interpretation of regulatory networks and human disease variants. I will also discuss how the recent advances in next generation sequencing and functional genomics are bringing closer our hopes for personalized medicine.

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Correspondence to Emmanouil Dermitzakis.

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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 (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Dermitzakis, E. Understanding the phenotypic impact of non-coding sequence variation. BMC Genomics 15, O12 (2014) doi:10.1186/1471-2164-15-S2-O12

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Keywords

  • Gene Expression
  • Genetic Variant
  • Generation Sequencing
  • Sequence Variation
  • Human Disease