title: Genetic and epigenetic contribution to complex traits.
abstract: Much of the recent advances in functional genomics owe to developments in next-generation sequencing technology, which has contributed to the exponential increase of genomic data available for different human disease and population samples. With functional sequencing assays available to query both the transcriptome and the epigenome, annotation of the non-coding, regulatory genome is steadily improving and providing means to interpret the functional consequences of genetic variants associated with human complex traits. This has highlighted the need to better understand the normal variation in various cellular phenotypes, such as epigenetic modifications, and their transgenerational inheritance. In this review, we discuss different aspects of epigenetic variation in the context of DNA sequence variation and its contribution to complex phenotypes.
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, Geneva 1211, Switzerland.
authors.forename: Helena
authors.initials: H
authors.lastname: Kilpinen
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
mesh_terms: D044127:Epigenesis, Genetic; D057890:Epigenomics; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D010641:Phenotype; D019655:Quantitative Trait, Heritable; D017422:Sequence Analysis, DNA