{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T02:13:36Z","timestamp":1773713616591,"version":"3.50.1"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2000,5,1]],"date-time":"2000-05-01T00:00:00Z","timestamp":957139200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Biotechnol"],"published-print":{"date-parts":[[2000,5]]},"DOI":"10.1038\/75360","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:48:26Z","timestamp":1027673306000},"page":"505-508","source":"Crossref","is-referenced-by-count":349,"title":["The use of single-nucleotide polymorphism maps in pharmacogenomics"],"prefix":"10.1038","volume":"18","author":[{"given":"Jeanette J.","family":"McCarthy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Hilfiker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFnbt0500_505_CR1","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1038\/3446","volume":"16","author":"V Brower","year":"1998","unstructured":"Brower, V. Genome II: the next frontier. Nat. Biotechnol. 16, 1004 (1998).","journal-title":"Nat. Biotechnol."},{"key":"BFnbt0500_505_CR2","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1126\/science.284.5413.406","volume":"284","author":"E Marshall","year":"1999","unstructured":"Marshall, E. Drug firms to create public database of genetic mutations. Science 284, 406\u2013407 (1999).","journal-title":"Science"},{"key":"BFnbt0500_505_CR3","doi-asserted-by":"publisher","first-page":"1540","DOI":"10.1126\/science.280.5369.1540","volume":"280","author":"JC Venter","year":"1998","unstructured":"Venter, J.C. et al. Shotgun sequencing of the human genome. Science. 280, 1540\u20131542 (1998).","journal-title":"Science."},{"key":"BFnbt0500_505_CR4","doi-asserted-by":"publisher","first-page":"2046","DOI":"10.1126\/science.278.5346.2046","volume":"278","author":"E Marshall","year":"1997","unstructured":"Marshall, E. \u2018Playing chicken\u2019 over gene markers. Science 278, 2046\u20132048 (1997).","journal-title":"Science"},{"key":"BFnbt0500_505_CR5","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1038\/13643","volume":"17","author":"J Hodgson","year":"1999","unstructured":"Hodgson, J. Curagen lays down markers; 120,000 of them. Nat. BIotechnol. 17, 951 (1999).","journal-title":"Nat. BIotechnol."},{"key":"BFnbt0500_505_CR6","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1038\/nbt1098-895","volume":"16","author":"S Davidson","year":"1998","unstructured":"Davidson, S. Incyte SNPs up Hexagen for new firm. Nat. Biotechnol. 16, 895 (1998).","journal-title":"Nat. Biotechnol."},{"key":"BFnbt0500_505_CR7","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/369064a0","volume":"369","author":"RM Bertina","year":"1994","unstructured":"Bertina, R.M. et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369, 64\u201367 (1994).","journal-title":"Nature"},{"key":"BFnbt0500_505_CR8","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/S0092-8674(00)80110-5","volume":"86","author":"R Liu","year":"1996","unstructured":"Liu, R. et al. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 86, 367\u2013377 (1996).","journal-title":"Cell"},{"key":"BFnbt0500_505_CR9","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1023\/A:1011909315614","volume":"16","author":"EY Krynetski","year":"1999","unstructured":"Krynetski, E.Y. & Evans W.E. Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransferase paradigm. Pharm. Res. 16, 342\u2013349 (1999).","journal-title":"Pharm. Res."},{"key":"BFnbt0500_505_CR10","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/9680","volume":"22","author":"JM Drazen","year":"1999","unstructured":"Drazen, J.M. et al. Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment. Nat. Genet. 22, 168\u2013170 (1999).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR11","doi-asserted-by":"publisher","first-page":"12260","DOI":"10.1073\/pnas.92.26.12260","volume":"92","author":"J Poirier","year":"1995","unstructured":"Poirier, J. et al. Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease. Proc. Natl. Acad. Sci. USA 92, 12260\u201312264 (1995).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnbt0500_505_CR12","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/ng0492-3","volume":"1","author":"FS Collins","year":"1992","unstructured":"Collins, F.S. Positional cloning: let's not call it reverse anymore. Nat. Genet. 1, 3\u20136 (1992).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR13","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1038\/ng0195-86","volume":"9","author":"TB Friedman","year":"1995","unstructured":"Friedman, T.B. et al. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat. Genet. 9, 86\u201391 (1995).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR14","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1038\/ng1294-380","volume":"8","author":"RHJ Houwen","year":"1994","unstructured":"Houwen, R.H.J. et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat. Genet. 8, 380\u2013386 (1994).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR15","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1093\/hmg\/3.8.1217","volume":"3","author":"EG Puffenberger","year":"1994","unstructured":"Puffenberger, E.G. et al. Identity-by-decent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum. Mol. Genet. 3, 1217\u20131225 (1994).","journal-title":"Hum. Mol. Genet."},{"key":"BFnbt0500_505_CR16","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1006\/geno.1998.5581","volume":"54","author":"E Lai","year":"1998","unstructured":"Lai, E., Riley, J., Purvis, I. & Roses, A. A 4-Mb high-density single nucleotide polymorphism-based map around human APOE. Genomics 54, 31\u201338 (1998).","journal-title":"Genomics"},{"key":"BFnbt0500_505_CR17","doi-asserted-by":"publisher","first-page":"1516","DOI":"10.1126\/science.273.5281.1516","volume":"273","author":"N Risch","year":"1996","unstructured":"Risch, N. & Merikangas, K. The future of genetic studies of complex human diseases. Science 273, 1516\u20131517 (1996).","journal-title":"Science"},{"key":"BFnbt0500_505_CR18","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1006\/geno.1998.5306","volume":"50","author":"GS Zubenko","year":"1998","unstructured":"Zubenko, G.S., Hughes, H.B., Stiffler, J.S., Hurtt, M.R. & Kaplan, B.B. A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution. Genomics. 50, 121\u2013128 (1998).","journal-title":"Genomics."},{"key":"BFnbt0500_505_CR19","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1086\/301977","volume":"63","author":"AG Clark","year":"1998","unstructured":"Clark, A.G. et al. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am. J. Hum. Genet. 63, 595\u2013612 (1998).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnbt0500_505_CR20","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1159\/000022794","volume":"48","author":"JD Terwilliger","year":"1998","unstructured":"Terwilliger, J.D., Zollner, S., Laan, M. & Paabo, S. Mapping genes through the use of linkage disequilbrium generated by genetic drift: \u2018drift mapping\u2019 in small populations with no demographic expansion. Hum. Hered. 48, 138\u2013154 (1998).","journal-title":"Hum. Hered."},{"key":"BFnbt0500_505_CR21","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1038\/10290","volume":"22","author":"M Cargill","year":"1999","unstructured":"Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22, 231\u2013238 (1999).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR22","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1038\/10297","volume":"22","author":"MK Halushka","year":"1999","unstructured":"Halushka, M.K. et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat. Genet. 22, 239\u2013247 (1999).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR23","doi-asserted-by":"publisher","first-page":"1503","DOI":"10.1016\/S0140-6736(05)80081-9","volume":"342","author":"T Koster","year":"1993","unstructured":"Koster, T. et al. Venous thrombosis due to poor anticoagulation response to activated protein C: Leiden Thrombophilia Study. Lancet 342, 1503\u20131506 (1993).","journal-title":"Lancet"},{"key":"BFnbt0500_505_CR24","doi-asserted-by":"publisher","first-page":"301","DOI":"10.3109\/03602537908993896","volume":"9","author":"JR Idle","year":"1979","unstructured":"Idle, J.R. & Smith, R.l. Polymorphisms of oxidation at carbon centers of drugs and their clinical significance. Drug Metab. Rev. 9, 301\u2013317 (1979).","journal-title":"Drug Metab. Rev."},{"key":"BFnbt0500_505_CR25","volume-title":"Principles of population genetics","author":"Dl Hartl","year":"1990","unstructured":"Hartl, D.l. & Clark, A.G. Principles of population genetics. (Sinauer Associates. Sunderland, MA; 1990)."},{"key":"BFnbt0500_505_CR26","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1093\/genetics\/152.4.1711","volume":"152","author":"GA Huttley","year":"1999","unstructured":"Huttley, G.A., Smith, M.W., Carrington, M. & O'Brien, S.J. A scan for linkage disequilibrium across the human genome. Genetics 152, 1711\u20131722 (1999).","journal-title":"Genetics"},{"key":"BFnbt0500_505_CR27","first-page":"884","volume":"54","author":"LB Jorde","year":"1994","unstructured":"Jorde, L.B. et al. Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am. J. Hum. Genet. 54, 884\u2013898 (1994).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnbt0500_505_CR28","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1038\/9642","volume":"22","author":"L Kruglyak","year":"1999","unstructured":"Kruglyak, L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet. 22, 139\u2013144 (1999).","journal-title":"Nat. Genet."},{"key":"BFnbt0500_505_CR29","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/genetics\/49.1.49","volume":"49","author":"RC Lewontin","year":"1964","unstructured":"Lewontin, R.C. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49\u201367 (1964).","journal-title":"Genetics"},{"key":"BFnbt0500_505_CR30","doi-asserted-by":"publisher","first-page":"947","DOI":"10.2337\/diab.38.8.947","volume":"38","author":"NJ Cox","year":"1989","unstructured":"Cox, N.J. & Bell, G.I. Disease associations: chance, artifact or susceptibility genes? Diabetes 38, 947\u2013950 (1989).","journal-title":"Diabetes"},{"key":"BFnbt0500_505_CR31","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1086\/302317","volume":"64","author":"M Osier","year":"1999","unstructured":"Osier, M. et al. Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. Am. J. Hum. Genet. 64, 1147\u20131157 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnbt0500_505_CR32","doi-asserted-by":"publisher","first-page":"6230","DOI":"10.1073\/pnas.86.16.6230","volume":"86","author":"RK Saiki","year":"1989","unstructured":"Saiki, R.K., Walsh, P.S., Levenson, C.H. & Erlich, H.A. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc. Natl. Acad. Sci. USA 86, 6230\u20136234 (1989).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnbt0500_505_CR33","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1126\/science.274.5287.610","volume":"274","author":"M Chee","year":"1996","unstructured":"Chee, M. et al. Accessing genetic information with high-density DNA arrays. Science 274, 610\u2013614 (1996).","journal-title":"Science"},{"key":"BFnbt0500_505_CR34","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","volume":"86","author":"M Orita","year":"1989","unstructured":"Orita, M., Iwahana, H., Kanazawa, H., Hayasi, K. & Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766\u20132770 (1989).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnbt0500_505_CR35","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-I","volume":"13","author":"AC Syvanen","year":"1999","unstructured":"Syvanen, A.C. From gels to chips: \u201cminisequencing\u201d primer extension for analysis of point mutations and single nucleotide polymorphisms. Hum. Mutat. 13, 1\u201310 (1999).","journal-title":"Hum. Mutat."},{"key":"BFnbt0500_505_CR36","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1086\/515512","volume":"61","author":"LF Barcellos","year":"1997","unstructured":"Barcellos, L.F. et al. Association mapping of disease loci by use of a pooled DNA genomic screen. Am. J. Hum. Genet. 61, 734\u2013747 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnbt0500_505_CR37","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1006\/mcpr.1999.0259","volume":"13","author":"G Breen","year":"1999","unstructured":"Breen, G. et al. Accuracy and sensitivity of DNA pooling with microsatellite repeats using capillary electrophoresis. Mol. Cell. Probes 13, 359\u2013365 (1999).","journal-title":"Mol. Cell. Probes"},{"key":"BFnbt0500_505_CR38","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1086\/302528","volume":"65","author":"SB Roberts","year":"1999","unstructured":"Roberts, S.B., MacLean, C.J., Neale, M.C., Eaves, L.J. & Kendler, K.S. Replication of linkage studies of complex traits: an examination of variation in location estimates. Am. J. Hum. Genet. 65, 876\u2013884 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnbt0500_505_CR39","volume-title":"Biostatistics: a methodology for the health sciences","author":"L Fisher","year":"1993","unstructured":"Fisher, L. Biostatistics: a methodology for the health sciences. (Wiley Science, New York, NY; 1993)."}],"container-title":["Nature Biotechnology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nbt0500_505.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nbt0500_505","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nbt0500_505.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T19:45:59Z","timestamp":1684439159000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nbt0500_505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,5]]},"references-count":39,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2000,5]]}},"alternative-id":["BFnbt0500_505"],"URL":"https:\/\/doi.org\/10.1038\/75360","relation":{},"ISSN":["1087-0156","1546-1696"],"issn-type":[{"value":"1087-0156","type":"print"},{"value":"1546-1696","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,5]]}}}