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NEUROLOGICAL REVIEW Charting a Course for Genetic Discovery in Neurological Diseases John Hardy, PhD; Andrew Singleton, PhD hole-genome association analyses have begun to yield confirmed findings for ge- netic risk variants for complex disease. As the first reports of its application to neu- rological disease are described, we review this progress, explain the principles of W the analysis, and discuss what the future is likely to be in this exciting area. Arch Neurol. 2008;65(3):319-321 The human genome draft sequence re- 15 years to find them: candidate gene as- 1,2 leased in 2001 was a consensus se- sociation studies and affected family mem- quence based on the stitching together of ber (sibpair) linkage studies. While each has DNA sequences from clones derived from had limited successes, progress in general many individuals; at best, this corre- had been disappointing. sponded to an imperfect sketch of the hu- This last year, finally, the drought in ge- man sequence and certainly represented netic findings for complex diseases has no one person. The immediate utility of ended and a deluge of clear disease asso- the human draft DNA sequence was that ciations has been reported. The reasons for it provided a map to allow
JAMA Neurology – American Medical Association
Published: Mar 1, 2008
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