Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms.
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M. Spitz | S. Sunyaev | C. Amos | I. Gorlov | O. Gorlova
[1] M. Kimura,et al. An introduction to population genetics theory , 1971 .
[2] E. Anderson. Hudson et al. , 1977 .
[3] W. Dupont,et al. Power and sample size calculations. A review and computer program. , 1990, Controlled clinical trials.
[4] S. Wilton,et al. Apolipoprotein E and Alzheimer's disease , 1995 .
[5] D. Cooper,et al. Human Gene Mutation Database , 1996, Human Genetics.
[6] N Risch,et al. The Future of Genetic Studies of Complex Human Diseases , 1996, Science.
[7] B Müller-Myhsok,et al. Genetic analysis of complex diseases. , 1997, Science.
[8] Johan Auwerx,et al. A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity , 1998, Nature Genetics.
[9] F. Guengerich. The Environmental Genome Project: functional analysis of polymorphisms. , 1998, Environmental health perspectives.
[10] M. King,et al. Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility , 1999, The Journal of Steroid Biochemistry and Molecular Biology.
[11] E. Lander,et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes , 1999 .
[12] E S Lander,et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. , 2000, Nature genetics.
[13] S T Sherry,et al. Use of molecular variation in the NCBI dbSNP database , 2000, Human mutation.
[14] M. Nachman,et al. Estimate of the mutation rate per nucleotide in humans. , 2000, Genetics.
[15] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[16] J. Pritchard. Are rare variants responsible for susceptibility to complex diseases? , 2001, American journal of human genetics.
[17] Judy H. Cho,et al. [Letters to Nature] , 1975, Nature.
[18] E. Lander,et al. On the allelic spectrum of human disease. , 2001, Trends in genetics : TIG.
[19] Damian Labuda,et al. Assessing DNA sequence variations in human ESTs in a phylogenetic context using high-density oligonucleotide arrays. , 2002, Genomics.
[20] Dan Graur,et al. Ratios of radical to conservative amino acid replacement are affected by mutational and compositional factors and may not be indicative of positive Darwinian selection. , 2002, Molecular biology and evolution.
[21] S. Gabriel,et al. The Structure of Haplotype Blocks in the Human Genome , 2002, Science.
[22] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[23] Tracy Webb,et al. SNPs: can genetic variants control cancer susceptibility? , 2002, Journal of the National Cancer Institute.
[24] J. Pritchard,et al. The allelic architecture of human disease genes: common disease-common variant...or not? , 2002, Human molecular genetics.
[25] R. Folz,et al. Oxidative stress and inflammation contribute to lung toxicity after a common breast cancer chemotherapy regimen. , 2002, American journal of physiology. Lung cellular and molecular physiology.
[26] D. Altshuler,et al. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. , 2003, Annual review of genomics and human genetics.
[27] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..
[28] S. Gabriel,et al. Quality and completeness of SNP databases , 2003, Nature Genetics.
[29] Toshihiro Tanaka. The International HapMap Project , 2003, Nature.
[30] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[31] Alexey S Kondrashov,et al. Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases , 2003, Human mutation.
[32] Lars Bolund,et al. A population threshold for functional polymorphisms. , 2003, Genome research.
[33] P. Stenson,et al. Human Gene Mutation Database (HGMD , 2003 .
[34] P. Tam. The International HapMap Consortium. The International HapMap Project (Co-PI of Hong Kong Centre which responsible for 2.5% of genome) , 2003 .
[35] W. G. Hill,et al. Influence of Dominance, Leptokurtosis and Pleiotropy of Deleterious Mutations on Quantitative Genetic Variation at Mutation-Selection Balance , 2004, Genetics.
[36] Steven J. Schrodi,et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. , 2004, American journal of human genetics.
[37] Jorng-Tzong Horng,et al. Identifying the combination of genetic factors that determine susceptibility to cervical cancer , 2004, Proceedings. Fourth IEEE Symposium on Bioinformatics and Bioengineering.
[38] Paul T. Groth,et al. The ENCODE (ENCyclopedia Of DNA Elements) Project , 2004, Science.
[39] M. W. Foster,et al. Integrating ethics and science in the International HapMap Project , 2004, Nature Reviews Genetics.
[40] Brian Staats,et al. SNP500Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes , 2004, Nucleic Acids Res..
[41] J. Denecke,et al. An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense‐mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG‐Id) , 2004, Human mutation.
[42] J. Ivanovich,et al. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA , 2004, American journal of medical genetics. Part A.
[43] Samuel H. Wilson,et al. The Environmental Genome Project: phase I and beyond. , 2004, Molecular interventions.
[44] Charles R Cantor,et al. The Use of Genetic SNPs as New Diagnostic Markers in Preventive Medicine , 2005, Annals of the New York Academy of Sciences.
[45] Gudmundur A. Thorisson,et al. The International HapMap Project Web site. , 2005, Genome research.
[46] Anthony J Brookes,et al. Linkage disequilibrium patterns vary substantially among populations , 2005, European Journal of Human Genetics.
[47] A. Edwards,et al. Complement Factor H Polymorphism and Age-Related Macular Degeneration , 2005, Science.
[48] J. Ott,et al. Complement Factor H Polymorphism in Age-Related Macular Degeneration , 2005, Science.
[49] C. Burge,et al. Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation , 2005, The Journal of Immunology.
[50] D. Carlini,et al. Synonymous SNPs Provide Evidence for Selective Constraint on Human Exonic Splicing Enhancers , 2005, Journal of Molecular Evolution.
[51] Sean D. Mooney,et al. Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis , 2005, Briefings Bioinform..
[52] N. Butta,et al. Type I Glanzmann thrombasthenia caused by an apparently silent β3 mutation that results in aberrant splicing and reduced β3 mRNA , 2005, Thrombosis and Haemostasis.
[53] D. Goldstein,et al. Association of genetic loci: Replication or not, that is the question , 2004, Neurology.
[54] Jack A. Taylor,et al. How Well Do HapMap Haplotypes Identify Common Haplotypes of Genes? A Comparison with Haplotypes of 334 Genes Resequenced in the Environmental Genome Project , 2006, Cancer Epidemiology Biomarkers & Prevention.
[55] Jonathan C. Cohen,et al. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. , 2006, American journal of human genetics.
[56] Genica,et al. Commonly studied single-nucleotide polymorphisms and breast cancer: Results from the Breast Cancer Association Consortium , 2006 .
[57] Margaret A. Pericak-Vance,et al. Genetic Analysis of Complex Disease , 2006 .
[58] C. Amos,et al. Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome. , 2006, Human molecular genetics.
[59] Hugues Sicotte,et al. SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes , 2005, Nucleic Acids Res..
[60] Paul D.P. Pharoah,et al. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. , 2007, Journal of the National Cancer Institute.
[61] D. Clayton,et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region , 2006, Nature Genetics.
[62] [Screening and analysis of coding SNPs of HLA-DQA1 gene involved in susceptibility for cervical cancer]. , 2006, Ai zheng = Aizheng = Chinese journal of cancer.
[63] Margaret R Karagas,et al. Concordance of multiple analytical approaches demonstrates a complex relationship between DNA repair gene SNPs, smoking and bladder cancer susceptibility. , 2006, Carcinogenesis.
[64] J. Pritchard,et al. A Map of Recent Positive Selection in the Human Genome , 2006, PLoS biology.
[65] Shamil R Sunyaev,et al. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. , 2007, American journal of human genetics.
[66] Marek Kimmel,et al. Simulations Provide Support for the Common Disease–Common Variant Hypothesis , 2007, Genetics.
[67] Doheon Lee,et al. SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms , 2006, Nucleic Acids Res..