Volume 12 Issue 8, August 2011

The increased genetic diversity in populations with recent ancestry from more than one continent may help in the identification of genetic variants underlying disease risk. This Progress article discusses recent developments in methods to study complex traits in these admixed populations, including combining SNP and admixture association signals.

Technological advances now allow large-scale studies of human disease-associated epigenetic variation, specifically variation in DNA methylation. Such epigenome-wide association studies present novel opportunities, but, as discussed here, they also create new challenges that are not encountered in genome-wide association studies.

Mammalian X-chromosome inactivation is a paradigm for understanding gene silencing by heterochromatin formation. This Review discusses recent progress and outstanding questions surrounding the initiation and maintenance of X-chromosome inactivation and its reactivation during both normal development and artificial reprogramming.

Genome-scale methods are providing increasingly detailed views of nucleosome organization and chromatin structure. This is enhancing our understanding of how DNA-based reactions occur in the context of chromatin and how they are influenced by genome accessibility.

Genomic imprinting has provided insights into epigenetic principles that apply in many contexts. This Timeline highlights lessons for developmental gene regulation by looking back at the emergence of our understanding of imprinting, particularly in mammals, and commenting on current questions and recent progress.

The genetic architecture of human disease is often hard to replicate in model organisms, and disease modelling in human cells is rapidly improving. Six leading model organism researchers provide their perspective on where this leaves non-human models of disease.