Finding missing heritability in epigenetics: Identification of inherited DNA-methylation loci (MethilHeri)
- Research Leader:
- Dr. Víctor Moreno
- Institution:
- ICO-IDIBELL
Project description
Though enormous efforts to identify genetic susceptibility loci based on common DNA variation, the proportion of genetic variance explained is very low. This project is based on the hypothesis that epigenetic (DNA methylation) variation is a relevant source of the missing heritability, and proposes a strategy to identify specific DNA methylation loci that follow a Mendelian inheritance pattern. The study will analyze by whole-genome bisulfite sequencing trios (parents and descendant) in a homogeneous blood cell type. Innovative bioinformatics approaches for methylation calling will be used to identify epigenetic inherited loci. The results will be relevant to design a DNA-methylation genotyping array specific to assess inherited methylation and gene imprinting, which will be useful for risk assessment and design of personalized screening strategies.
Contact person Dr. Víctor Moreno
