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Nature. 2000 Jun 15;405(6788):847-56.

Searching for genetic determinants in the new millennium.

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  • Department of Genetics, Stanford University School of Medicine, California 94305-5120, USA.


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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