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  • Review Article
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Searching for genetic determinants in the new millennium

Abstract

Human genetics is now at a critical juncture. The molecular methods used successfully to identify the genes underlying rare mendelian syndromes are failing to find the numerous genes causing more common, familial, non-mendelian diseases. With the human genome sequence nearing completion, new opportunities are being presented for unravelling the complex genetic basis of non-mendelian disorders based on large-scale genome-wide studies. Considerable debate has arisen regarding the best approach to take. In this review I discuss these issues, together with suggestions for optimal post-genome strategies.

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Figure 1: Examples of mendelian and non-mendelian inheritance using a gaussian model.
Figure 2: Examples of two-locus genetic models.
Figure 3
Figure 4: Comparison of linkage (dashed lines) with association analysis (solid lines) for detecting genetic effects.
Figure 5: Example of candidate-gene association analysis using different control groups.

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Risch, N. Searching for genetic determinants in the new millennium. Nature 405, 847–856 (2000). https://doi.org/10.1038/35015718

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