Searching for genetic determinants in the new millennium

Nature. 2000 Jun 15;405(6788):847-56. doi: 10.1038/35015718.


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.

Publication types

  • Review

MeSH terms

  • Biotechnology
  • Computational Biology
  • Genetic Diseases, Inborn / genetics
  • Genetic Predisposition to Disease
  • Genetics, Medical / trends*
  • Genome, Human*
  • Humans