Skip to content


  • Oral presentation
  • Open Access

Understanding the phenotypic impact of non-coding sequence variation

BMC Genomics201415 (Suppl 2) :O12

  • Published:


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

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.

Authors’ Affiliations

Department of Genetic Medicine and Development, Suisse University of Geneva Medical School, 1 Rue Michel-Servet (CMU office 9088), Geneva, 1211, Switzerland
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, P.O. Box: 80216, Jeddah, 21589, Kingdom of Saudi Arabia


© Dermitzakis; licensee BioMed Central Ltd. 2014

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.