Mid-Term Report Summary - POPRNASEQ (Population transcriptional genomics in humans using high throughput sequencing)
In the first 2.5 years of the projects, our work has advanced well and we have achieved many of the goals originally set for the project. We have dissected the relationships and learned many of the properties of genetic and epigenetic variation and how the two together interact to influence gene activity (gene expression). We have also explored how gene expression is linked to disease genetic variants and how some of the mechanistic relationships we learn may facilitate the understanding of pathophysiology of genetic diseases.
In the next phase of the project we will attempt to translate the knowledge we have obtained in further understanding the molecular and mechanistic relationship of gene expression and organismal complex traits. We are currently developing models to derive personalized transcriptomic profiles and we use them to integrate the joint effect of the genome and environment on the biology of the human body. We anticipate that this and similar approaches by others will eventually lead to the use of transcriptomics as a useful and standard clinical biomarker for the accurate prognosis and disease diagnosis.
In the next phase of the project we will attempt to translate the knowledge we have obtained in further understanding the molecular and mechanistic relationship of gene expression and organismal complex traits. We are currently developing models to derive personalized transcriptomic profiles and we use them to integrate the joint effect of the genome and environment on the biology of the human body. We anticipate that this and similar approaches by others will eventually lead to the use of transcriptomics as a useful and standard clinical biomarker for the accurate prognosis and disease diagnosis.