Searching for genetic determinants in the new millennium
作者： Neil J. Risch
DOI: 10.1038/35015718
关键词: Genetics 、 Mendelian inheritance 、 Genomics 、 Computational biology 、 Systems biology 、 Medical research 、 Human genetics 、 Human genome 、 Science policy 、 Genome 、 Biology
摘要: 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 …
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sci-hub.se 参考文章(49)
M Litt, J A Luty, A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. American Journal of Human Genetics. ,vol. 44, pp. 397- 401 ,(1989)
N Risch, Linkage strategies for genetically complex traits. I. Multilocus models. American Journal of Human Genetics. ,vol. 46, pp. 222- 228 ,(1990)
Newton E. Morton, Sequential tests for the detection of linkage American Journal of Human Genetics. ,vol. 7, pp. 277- 318 ,(1955)
E. Mignot, X. Lin, J. Arrigoni, C. Macaubas, F. Olive, J. Hallmayer, P. Underhill, C. Guilleminault, W. C. Dement, F. C. Grumet, DQB1*0602 and DQA1*0102 (DQ1) Are Better Markers Than DR2 for Narcolepsy in Caucasian and Black Americans Sleep. ,vol. 17, pp. S60- S67 ,(1994) , 10.1093/SLEEP/17.SUPPL_8.S60
Yuri M. Svirezhev, Vladimir P. Passekov, Multi-Locus Models Springer, Dordrecht. pp. 191- 235 ,(1990) , 10.1007/978-94-009-2589-2_9
J L Weber, P E May, Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction American Journal of Human Genetics. ,vol. 44, pp. 388- 396 ,(1989)
W J Ewens, R S Spielman, R E McGinnis, Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). American Journal of Human Genetics. ,vol. 52, pp. 506- 516 ,(1993)
Alan F Wright, Andrew D Carothers, Mario Pirastu, Population choice in mapping genes for complex diseases. Nature Genetics. ,vol. 23, pp. 397- 404 ,(1999) , 10.1038/70501
Deborah A. Nickerson, Scott L. Taylor, Kenneth M. Weiss, Andrew G. Clark, Richard G. Hutchinson, Jari Stengård, Veikko Salomaa, Erkki Vartiainen, Eric Boerwinkle, Charles F. Sing, DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene Nature Genetics. ,vol. 19, pp. 233- 240 ,(1998) , 10.1038/907
D Botstein, R W Davis, R L White, M Skolnick, Construction of a genetic linkage map in man using restriction fragment length polymorphisms. American Journal of Human Genetics. ,vol. 32, pp. 314- 331 ,(1980)