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| Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease |
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| Author(s): Botstein D, Risch N |
| Source: NATURE GENETICS Volume: 33 Pages: 228-237 Supplement: Suppl. S Published: MAR 2003 |
| Times Cited: 530 References: 78 |
| Abstract: The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. The roughly 1,200 genes that have been characterized have clarified our understanding of the molecular basis of human genetic disease. The principles derived from these successes should be applied now to strategies aimed at finding the considerably more elusive genes that underlie complex disease phenotypes. The distribution of types of mutation in mendelian disease genes argues for serious consideration of the early application of a genomic-scale sequence-based approach to association studies and against complete reliance on a positional cloning approach based on a map of anonymous single nucleotide polymorphism haplotypes. |
| Document Type: Review |
| Language: English |
| Reprint Address: Botstein, D (reprint author), Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA |
Addresses:
1. Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA
2. Kaiser Permanente, Div Res, Oakland, CA 94612 USA |
| Publisher: NATURE AMERICA INC, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 652QY |
| ISSN: 1061-4036 |
| DOI: 10.1038/ng1090 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |