基因型填补的原理与方法及其在遗传流行病学研究中的应用
Genotype imputation: principle, methods and application in studies on genetic epidemiology
摘要
基因型填补(genotype impumtion)是指依据已分型位点的基因型对数据缺失位点或未分型位点进行基因型预测的方法。在全基因组关联研究(genome-wide association study,GWAS)中,基因芯片分型的位点大约为10万~100万个。芯片的分型缺失率较高,一定程度上降低了芯片的密度。
出处
《中华流行病学杂志》
CAS
CSCD
北大核心
2010年第6期702-706,共5页
Chinese Journal of Epidemiology
关键词
基因型填补
遗传流行病学
全基因组关联研究
Genotype imputation
Genetic epidemiology
Genome-wide association study
参考文献24
-
1Zeggini E, Scott L J, Saxena R, et al. Meta-analysis of genomewide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet, 2008,40 (3) : 638-645.
-
2Kathiresan S, Melander O, Guiducci C, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high- density lipoprotein cholesterol or triglycerides in humans. Nat Genet,2008,40(2) : 189-197.
-
3Willer C J, Sanna S, Jackson AU, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet,2008,40(2) : 161-169.
-
4Sanna S, Jackson AU, Nagaraja R, et al. Common variants in the GDF5 region are associated with variation in human height. Nat Genet, 2008,40(2) : 198-203.
-
5Loos R J, Lindgren CM, Li S, et al. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet, 2008,40 (6) : 768-775.
-
6Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn' s disease. Nat Genet, 2008,40 (8) : 955-962.
-
7Abecasis GR, Cookson WO. GOLD-Graphical Overview of Linkage Disequilibrium.Bioinformatics, 2000,16(2) : 182-183.
-
8Zhao-H, Nettleton D, Dekkers JC. Evaluation of linkage disequilibrium measures between multiallelic markers as predictors of linkage disequilibrium between single nucleotide polymorphisms. Genet Res, 2007,89( 1 ) : 1-6.
-
9Akey J, Jin L, Xiong M. Haplotypes vs single marker linkage disequilibrium tests: what do we gain? Eur J Hum Genet, 2001, 9(4) :291-300.
-
10Burdick JT, Chen WM, Abecasis GR, et al. In silico method for inferring genotypes in pedigrees. Nat Genet, 2006,38 (9) : 1002- 1004.
-
1谭奎璧,戴勇.遗传流行病学研究方法的进展[J].医学综述,2011,17(11):1627-1629. 被引量:1
-
2王建华.中国的遗传流行病学研究[J].中华流行病学杂志,1999,20(6):331-333. 被引量:1
-
3王建华,刘新民,刘少明,耿贯一.血压的遗传流行病学研究[J].中国公共卫生学报,1992,11(5):279-281.
-
4刘琦琦,王宁,袁甜,高磊,贾海莲,包艳.FTO基因与肥胖关系的研究进展[J].中国校医,2016,30(6):474-475. 被引量:1
-
5宋彦丽,蔡金乐,潘岳松,刘改芬.缺血性卒中的遗传流行病学研究[J].中国卒中杂志,2014,9(3):246-251. 被引量:10
-
6顾东风.常见复杂性疾病的遗传学和遗传流行病学研究:挑战和对策[J].中国医学科学院学报,2006,28(2):115-118. 被引量:8
-
7陈峰,柏建岭,赵杨,荀鹏程.全基因组关联研究中的统计分析方法[J].中华流行病学杂志,2011,32(4):400-404. 被引量:11
-
8梁融,张俊国,卜涛,刘丽,李丽霞,张敏,郜艳晖.稀有变异的关联性研究统计方法[J].中华流行病学杂志,2015,36(8):900-903. 被引量:3
-
9汤华阳,张学军.全基因组关联研究meta分析搜寻中国汉族人系统性红斑狼疮易感基因[J].安徽医科大学学报,2013,48(7). 被引量:1
-
10张鸿生,裴世凤.马踏湖水污染的遗传流行病学研究[J].环境与健康杂志,1989,6(3):4-7.