{"title":"疾病位点的精细制图","authors":"J. C. Whittaker, A. P. Morris, D. J. Balding","doi":"10.1046/j.1466-9218.2000.00030.x","DOIUrl":null,"url":null,"abstract":"<p>We review the issues involved in the fine-scale mapping of disease loci via allelic association. We argue that it is vital to properly account for uncertainty about the genealogy of the disease locus and founding haplotypes at the surrounding markers: we sketch how this might be done in a Bayesian framework using Markov chain Monte Carlo tecniques, and show that this works well for the much analysed data on the location of the Δ508 mutation for cystic fibrosis.</p>","PeriodicalId":100575,"journal":{"name":"GeneScreen","volume":"1 2","pages":"101-102"},"PeriodicalIF":0.0000,"publicationDate":"2008-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1046/j.1466-9218.2000.00030.x","citationCount":"2","resultStr":"{\"title\":\"Fine-scale mapping of disease loci\",\"authors\":\"J. C. Whittaker, A. P. Morris, D. J. Balding\",\"doi\":\"10.1046/j.1466-9218.2000.00030.x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>We review the issues involved in the fine-scale mapping of disease loci via allelic association. We argue that it is vital to properly account for uncertainty about the genealogy of the disease locus and founding haplotypes at the surrounding markers: we sketch how this might be done in a Bayesian framework using Markov chain Monte Carlo tecniques, and show that this works well for the much analysed data on the location of the Δ508 mutation for cystic fibrosis.</p>\",\"PeriodicalId\":100575,\"journal\":{\"name\":\"GeneScreen\",\"volume\":\"1 2\",\"pages\":\"101-102\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2008-06-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1046/j.1466-9218.2000.00030.x\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"GeneScreen\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1046/j.1466-9218.2000.00030.x\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"GeneScreen","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1046/j.1466-9218.2000.00030.x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
We review the issues involved in the fine-scale mapping of disease loci via allelic association. We argue that it is vital to properly account for uncertainty about the genealogy of the disease locus and founding haplotypes at the surrounding markers: we sketch how this might be done in a Bayesian framework using Markov chain Monte Carlo tecniques, and show that this works well for the much analysed data on the location of the Δ508 mutation for cystic fibrosis.