Featured
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Review Article |
Exome sequencing as a tool for Mendelian disease gene discovery
Exome sequencing is a powerful approach for accelerating the discovery of the genes underlying Mendelian disorders and, increasingly, of genes underlying complex traits. This Review describes the experimental and analytical options for applying exome sequencing and the key challenges in using this approach.
- Michael J. Bamshad
- , Sarah B. Ng
- & Jay Shendure
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Research Highlight |
Direct-access genetic testing: the view from Europe
- Larry J. Kricka
- , Paolo Fortina
- & George P. Patrinos
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Science and Society |
Advances in prenatal screening: the ethical dimension
Technological advances are driving rapid changes in prenatal screening: for example, the use of genome-wide molecular tests for diagnostic follow-up and the pending introduction of non-invasive testing. These advances raise difficult ethical questions about issues such as meaningful reproductive choice, equity of access and the proportionality of testing.
- Antina de Jong
- , Wybo J. Dondorp
- & Guido M. W. R. de Wert
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Review Article |
Using electronic health records to drive discovery in disease genomics
Increasing efforts are being made to integrate electronic health records into disease genetics and genomics studies and to use the biological 'by-products' of health-care for research. Such efforts promise to decrease the cost of genomics studies and increase their clinical relevance.
- Isaac S. Kohane
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Review Article |
The population genetics of antibiotic resistance: integrating molecular mechanisms and treatment contexts
The authors discuss the evolutionary dynamics of antibiotic resistance in bacteria in relation to the complex interplay between population genetic factors and the spatial and temporal pattern of antibiotic use.
- R. Craig MacLean
- , Alex R. Hall
- & Angus Buckling
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Reliable repositioning in cancer