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The use of genome-wide association (GWA) approaches to identify variants that affect drug response or reaction is increasing rapidly, with at least 12 studies appearing in 2009 alone. This article reviews these pharmacogenomics GWA studies, and the prospects for this field.
Expansions of repeat sequences cause some of the most common inherited neurological diseases. But how do repeats in DNA lead to pathogenesis? This Review considers the diverse mechanisms that are now emerging, including aberrant splicing, post-translational modification and autophagy.
Despite the yield of genome-wide association studies, the variants identified explain little of the heritability of most complex diseases. This unexplained heritability could be partly due to gene–environment (G×E) interactions. This Review provides a guide to designs and analytical approaches for studying specific G×E interactions.
Retinal degeneration due to photoreceptor cell death is a major cause of visual impairment in adults. Over one hundred genes have been implicated, so how does this genetic heterogeneity converge on a shared phenotype? The emerging insights have implications for therapy.
The transmission of epigenetic information through cell divisions is crucial for maintaining cellular identity. Inheritance seems to involve multiple, cooperative mechanisms, including non-coding RNAs and feedback loops among chromatin modifications and modifiers.
'Omics' technologies are making it possible to simultaneously measure a substantial portion of the molecular components of a cell. This article describes the challenges that need to be confronted to develop and refine genome-scale reconstructions of signalling networks.