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Nature Biotechnology  16, 33 - 39 (1998)
doi:10.1038/nbt0198-33

DNA variation and the future of human genetics

Alan J. Schafer1, * & J. Ross Hawkins2

  1Hexagen, 214 Cambridge Science Park, Milton Rd., Cambridge CB4 4WA, UK.

  2Box 116, Department of Pediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK.

  *e-mail: alan.schafer@hexagen.co.uk

The use of DNA variants in the mapping of the human genome and in the positional cloning of monogenie disease genes is well established. Determining the genetic bases of the more common "multifactorial" diseases, however, presents a major challenge. The genetics of these diseases are complicated by the interplay between many genes and the environment. These investigations will require large numbers of DNA markers and the technology to screen large populations with these markers. The systematic identification of the common DNA polymorphisms in the human genome coupled with the development of high throughput screening methods should allow ultimately the elucidation of the genetic component of most clinical and nonclinical phenotypes.

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