publication . Other literature type . Article . 2010

Rare variants create synthetic genome-wide associations.

Dickson, Samuel P.; Wang, Kai; Krantz, Ian; Hakonarson, Hakon; Goldstein, David B.;
  • Published: 26 Jan 2010
  • Publisher: Public Library of Science (PLoS)
Abstract
A large number of different common variants has been associated with very modest increases of risk for various common diseases. A simulation study shows that rare variants with much greater impacts on disease risk may be responsible for some of these associations.
Subjects
free text keywords: Biology (General), QH301-705.5, Research Article, Computational Biology, Genetics and Genomics, Allele, Minor allele frequency, Genome-wide association study, Locus (genetics), Genetic association, Synthetic genomics, Genotype, Genetic model, Biology, Genetics
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
40 references, page 1 of 3

McCarthy, M. I, Hirschhorn, J. N. Genome-wide association studies: potential next steps on a genetic journey.. Hum Mol Genet. 2008; 17: R156-165 [OpenAIRE] [PubMed]

Lowe, C. E, Cooper, J. D, Brusko, T, Walker, N. M, Smyth, D. J. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.. Nat Genet. 2007; 39: 1074-1082 [PubMed]

Burfoot, R. K, Jensen, C. J, Field, J, Stankovich, J, Varney, M. D. SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians.. Tissue Antigens. 2008; 71: 42-50 [OpenAIRE] [PubMed]

Hafler, J. P, Maier, L. M, Cooper, J. D, Plagnol, V, Hinks, A. CD226 Gly307Ser association with multiple autoimmune diseases.. Genes Immun. 2009; 10: 5-10 [OpenAIRE] [PubMed]

High throughput approaches to fine mapping in regions of confirmed association.. 2008

Goldstein, D. B. Common genetic variation and human traits.. N Engl J Med. 2009; 360: 1696-1698 [PubMed]

Risch, N, Merikangas, K. The future of genetic studies of complex human diseases.. Science. 1996; 273: 1516-1517 [OpenAIRE] [PubMed]

Reich, D. E, Lander, E. S. On the allelic spectrum of human disease.. Trends Genet. 2001; 17: 502-510 [PubMed]

Gibson, G, Goldstein, D. B. Human genetics: the hidden text of genome-wide associations.. Curr Biol. 2007; 17: R929-932 [PubMed]

Gladwin, M. T, Vichinsky, E. Pulmonary complications of sickle cell disease.. N Engl J Med. 2008; 359: 2254-2265 [PubMed]

Ashley-Koch, A, Yang, Q, Olney, R. S. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.. Am J Epidemiol. 2000; 151: 839-845 [PubMed]

Tekin, M, Arnos, K. S, Pandya, A. Advances in hereditary deafness.. Lancet. 2001; 358: 1082-1090 [OpenAIRE] [PubMed]

Petersen, M. B, Willems, P. J. Non-syndromic, autosomal-recessive deafness.. Clin Genet. 2006; 69: 371-392 [PubMed]

Hilgert, N, Smith, R. J, Van Camp, G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat Res. 2009; 681: 189-196 [OpenAIRE] [PubMed]

Kenneson, A, Van Naarden Braun, K, Boyle, C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.. Genet Med. 2002; 4: 258-274 [OpenAIRE] [PubMed]

40 references, page 1 of 3
Abstract
A large number of different common variants has been associated with very modest increases of risk for various common diseases. A simulation study shows that rare variants with much greater impacts on disease risk may be responsible for some of these associations.
Subjects
free text keywords: Biology (General), QH301-705.5, Research Article, Computational Biology, Genetics and Genomics, Allele, Minor allele frequency, Genome-wide association study, Locus (genetics), Genetic association, Synthetic genomics, Genotype, Genetic model, Biology, Genetics
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
40 references, page 1 of 3

McCarthy, M. I, Hirschhorn, J. N. Genome-wide association studies: potential next steps on a genetic journey.. Hum Mol Genet. 2008; 17: R156-165 [OpenAIRE] [PubMed]

Lowe, C. E, Cooper, J. D, Brusko, T, Walker, N. M, Smyth, D. J. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.. Nat Genet. 2007; 39: 1074-1082 [PubMed]

Burfoot, R. K, Jensen, C. J, Field, J, Stankovich, J, Varney, M. D. SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians.. Tissue Antigens. 2008; 71: 42-50 [OpenAIRE] [PubMed]

Hafler, J. P, Maier, L. M, Cooper, J. D, Plagnol, V, Hinks, A. CD226 Gly307Ser association with multiple autoimmune diseases.. Genes Immun. 2009; 10: 5-10 [OpenAIRE] [PubMed]

High throughput approaches to fine mapping in regions of confirmed association.. 2008

Goldstein, D. B. Common genetic variation and human traits.. N Engl J Med. 2009; 360: 1696-1698 [PubMed]

Risch, N, Merikangas, K. The future of genetic studies of complex human diseases.. Science. 1996; 273: 1516-1517 [OpenAIRE] [PubMed]

Reich, D. E, Lander, E. S. On the allelic spectrum of human disease.. Trends Genet. 2001; 17: 502-510 [PubMed]

Gibson, G, Goldstein, D. B. Human genetics: the hidden text of genome-wide associations.. Curr Biol. 2007; 17: R929-932 [PubMed]

Gladwin, M. T, Vichinsky, E. Pulmonary complications of sickle cell disease.. N Engl J Med. 2008; 359: 2254-2265 [PubMed]

Ashley-Koch, A, Yang, Q, Olney, R. S. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.. Am J Epidemiol. 2000; 151: 839-845 [PubMed]

Tekin, M, Arnos, K. S, Pandya, A. Advances in hereditary deafness.. Lancet. 2001; 358: 1082-1090 [OpenAIRE] [PubMed]

Petersen, M. B, Willems, P. J. Non-syndromic, autosomal-recessive deafness.. Clin Genet. 2006; 69: 371-392 [PubMed]

Hilgert, N, Smith, R. J, Van Camp, G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat Res. 2009; 681: 189-196 [OpenAIRE] [PubMed]

Kenneson, A, Van Naarden Braun, K, Boyle, C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.. Genet Med. 2002; 4: 258-274 [OpenAIRE] [PubMed]

40 references, page 1 of 3
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