Dissecting regulatory variation in human genomes using RNA sequencing
Event details
| Date | 11.01.2011 |
| Hour | 10:00 |
| Speaker | Dr Stephen MONTGOMERY, University of Geneva, Switzerland |
| Location | |
| Category | Conferences - Seminars |
Our ability to understand and predict complex human traits is being enhanced by our ability to uncover the effects of genetic variation on cellular state. Specifically, by identifying the genetic variants which influence the expression of particular genes, it is likely we are also uncovering those variants which inform various human conditions. Now, with the increasing availability of complete genomes we have the resolution to integrate rare and common as well as small and large variants into a more complete model of association with the aim of pinpointing specific causal variants. To approach this, we analyzed 60 complete genomes from the 1000 Genomes Project with respect to gene expression assayed by next generation RNA sequencing (RNA-Seq). We have assessed the association of 6.5 million common genetic variants with the expression of 22,194 protein coding genes. We have compared the relative effects of single base pair changes (SNPs) versus small structural variants (indels) on gene expression. We have investigated genetically-determined features of alternative splicing. We have furthermore developed novel strategies for assessing allele-specific expression and have integrated this information to further understand the impact of rare variants and to uncover structural features of the transcriptome.
Practical information
- General public
- Free