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The 2013 March of Dimes Prize in Developmental Biology has been awarded to Eric Olson of the University of Texas Southwestern for his pioneering research on the molecular mechanisms of heart and other muscle development. The prize recognizes researchers whose work has contributed to our understanding of the science that underlies birth defects. Hannah Stower talked to Eric Olson about the impact his achievements have had on human health.
Several promising genetic approaches are being investigated for the treatment of Duchenne muscular dystrophy, including traditional gene therapy, stop codon read-through, exon skipping and increased expression of a compensatory gene. The lessons learned should also be valuable for other disorders.
The authors review statistical methods for meta-analysis of genome-wide association studies (GWASs) and extensions of these methods to complex data. They discuss how low-frequency variants can be incorporated into meta-analyses as next-generation sequencing data become more commonly used in GWASs.
The three-dimensional organization of genomes can now be explored at increased resolution using approaches based on 3C technology. This Review discusses how these chromatin interaction data sets can be interpreted using statistical approaches and computational modelling, and considers the levels of organization that are revealed.
Genome-wide data hold the key to answering long-standing questions about the mechanisms of speciation, including the role of gene flow. Here, the authors discuss recently developed methods to analyse genome-wide data and consider emerging results from their recent application.
The authors review current technologies for clinical genetic testing. Moves are being made towards whole-genome and whole-exome sequencing in the clinic, although other technologies will continue to be of value.
Our understanding of the molecular steps that occur during reprogramming somatic cells to induced pluripotent stem cells has recently been improved through analyses of cell populations and single cells. Here the authors consider the phases of reprogramming, models for describing the process and the roles of reprogramming factors.