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Volumn 1, Issue 6, 2007, Pages 2573-2582

Single nucleotide polymorphism (SNP) allele frequency estimation in DNA pools using Pyrosequencing™

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DNA SEQUENCE; GENE FREQUENCY; GENOTYPE; METHODOLOGY; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 34548826761     PISSN: 17542189     EISSN: 17502799     Source Type: Journal    
DOI: 10.1038/nprot.2006.442     Document Type: Article
Times cited : (41)

References (29)
  • 1
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 2
    • 33750444621 scopus 로고    scopus 로고
    • A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
    • Conrad, D.F. et al. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nature Genet. 38 1251-1260 (2006).
    • (2006) Nature Genet , vol.38 , pp. 1251-1260
    • Conrad, D.F.1
  • 3
    • 33748804424 scopus 로고    scopus 로고
    • A tutorial on statistical methods for population association studies
    • Balding, D.J. A tutorial on statistical methods for population association studies. Nature Rev. Genet. 7, 781-791 (2006).
    • (2006) Nature Rev. Genet , vol.7 , pp. 781-791
    • Balding, D.J.1
  • 4
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch, N. & Merikangas, K. The future of genetic studies of complex human diseases. Science 273, 1516-1517 (1996).
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 5
    • 33644830588 scopus 로고    scopus 로고
    • Power and sample size for testing associations of haplotypes with complex traits
    • Schaid, D.J. Power and sample size for testing associations of haplotypes with complex traits. Ann. Hum. Genet. 70, 116-130 (2006).
    • (2006) Ann. Hum. Genet , vol.70 , pp. 116-130
    • Schaid, D.J.1
  • 6
    • 20044369371 scopus 로고    scopus 로고
    • Toward genome-wide SNP genotyping
    • Syvänen, A.C. Toward genome-wide SNP genotyping. Nature Genet. 37 (Suppl): S5-S10 (2005).
    • (2005) Nature Genet , vol.37 , Issue.SUPPL.
    • Syvänen, A.C.1
  • 9
    • 0036590151 scopus 로고    scopus 로고
    • Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools
    • Norton, N. et al. Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools. Hum. Genet. 110, 471-478 (2002).
    • (2002) Hum. Genet , vol.110 , pp. 471-478
    • Norton, N.1
  • 10
    • 2442474313 scopus 로고    scopus 로고
    • SNP allele frequency estimation in DNA pools and variance components analysis
    • Downes, K. et al. SNP allele frequency estimation in DNA pools and variance components analysis. Biotechniques 36, 840-845 (2004).
    • (2004) Biotechniques , vol.36 , pp. 840-845
    • Downes, K.1
  • 11
    • 4444270196 scopus 로고    scopus 로고
    • Genotyping pooled DNA on microarrays: A systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits
    • Butcher, L.M. et al. Genotyping pooled DNA on microarrays: A systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits. Behav. Genet. 34, 549-555 (2004).
    • (2004) Behav. Genet , vol.34 , pp. 549-555
    • Butcher, L.M.1
  • 12
    • 27644523251 scopus 로고    scopus 로고
    • Identification of disease causing loci using an array-based genotyping approach on pooled DNA
    • Craig, D.W. et al. Identification of disease causing loci using an array-based genotyping approach on pooled DNA. BMC Genomics 6 138 (2005).
    • (2005) BMC Genomics , vol.6 , pp. 138
    • Craig, D.W.1
  • 13
    • 0036590014 scopus 로고    scopus 로고
    • Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing
    • Gruber, J.D., Colligan, P.B. & Wolford, J.K. Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing. Hum. Genet. 110, 395-401 (2002).
    • (2002) Hum. Genet , vol.110 , pp. 395-401
    • Gruber, J.D.1    Colligan, P.B.2    Wolford, J.K.3
  • 14
    • 0036244765 scopus 로고    scopus 로고
    • Rapid SNP allele frequency determination in genomic DNA pools by Pyrosequencing™
    • Neve, B. et al. Rapid SNP allele frequency determination in genomic DNA pools by Pyrosequencing™. BioTechniques 32, 1138-1142 (2002).
    • (2002) BioTechniques , vol.32 , pp. 1138-1142
    • Neve, B.1
  • 15
    • 0036244869 scopus 로고    scopus 로고
    • Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by Pyrosequencing™ technology
    • Wasson, J., Skolnick, G., Love-Gregory, L. & Permutt, M.A. Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by Pyrosequencing™ technology. BioTechniques 32, 1144-1152 (2002).
    • (2002) BioTechniques , vol.32 , pp. 1144-1152
    • Wasson, J.1    Skolnick, G.2    Love-Gregory, L.3    Permutt, M.A.4
  • 16
    • 0347988090 scopus 로고    scopus 로고
    • Pyrosequencing-based SNP allele frequency estimation in DNA pools
    • Lavebratt, C., Sengul, S., Jansson, M. & Schalling, M. Pyrosequencing-based SNP allele frequency estimation in DNA pools. Hum. Mutat. 23, 92-97 (2004).
    • (2004) Hum. Mutat , vol.23 , pp. 92-97
    • Lavebratt, C.1    Sengul, S.2    Jansson, M.3    Schalling, M.4
  • 17
    • 0036895371 scopus 로고    scopus 로고
    • Searching for type 2 diabetes genes on chromosome 20
    • Permutt, M.A. et al. Searching for type 2 diabetes genes on chromosome 20. Diabetes 51, 308-315 (2002).
    • (2002) Diabetes , vol.51 , pp. 308-315
    • Permutt, M.A.1
  • 18
    • 1842422877 scopus 로고    scopus 로고
    • A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population
    • Love-Gregory, L.D. et al. A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population. Diabetes 53, 1134-1140 (2004).
    • (2004) Diabetes , vol.53 , pp. 1134-1140
    • Love-Gregory, L.D.1
  • 19
    • 3242789421 scopus 로고    scopus 로고
    • Adiponectin receptor 1 gene (ADIPOR1) as a candidate for type 2 diabetes and insulin resistance
    • Wang, H. et al. Adiponectin receptor 1 gene (ADIPOR1) as a candidate for type 2 diabetes and insulin resistance. Diabetes 53, 2132-2136 (2004).
    • (2004) Diabetes , vol.53 , pp. 2132-2136
    • Wang, H.1
  • 20
    • 14044259453 scopus 로고    scopus 로고
    • Molecular screening and association analyses of the interleukin 6 receptor gene variants with type 2 diabetes, diabetic nephropathy, and insulin sensitivity
    • Wang, H. et al. Molecular screening and association analyses of the interleukin 6 receptor gene variants with type 2 diabetes, diabetic nephropathy, and insulin sensitivity. J. Clin. Endocrinol. Metab. 90, 1123-1129 (2005).
    • (2005) J. Clin. Endocrinol. Metab , vol.90 , pp. 1123-1129
    • Wang, H.1
  • 22
    • 0032540905 scopus 로고    scopus 로고
    • A sequencing method based on real-time pyrophosphate detection
    • Ronaghi, M., Uhlén, M. & Nyrén, P. A sequencing method based on real-time pyrophosphate detection. Science 281, 363-365 (1998).
    • (1998) Science , vol.281 , pp. 363-365
    • Ronaghi, M.1    Uhlén, M.2    Nyrén, P.3
  • 23
    • 0033824460 scopus 로고    scopus 로고
    • Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing
    • Alderborn, A., Kristofferson, A. & Hammerling, U. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res. 10, 1249-1258 (2000).
    • (2000) Genome Res , vol.10 , pp. 1249-1258
    • Alderborn, A.1    Kristofferson, A.2    Hammerling, U.3
  • 24
    • 0036011282 scopus 로고    scopus 로고
    • Pyrosequencing™: An accurate detection platform for single nucleotide polymorphisms
    • Fakhrai-Rad, H., Pourmand, N. & Ronaghi, M. Pyrosequencing™: An accurate detection platform for single nucleotide polymorphisms. Hum. Mutat. 19, 479-485 (2002).
    • (2002) Hum. Mutat , vol.19 , pp. 479-485
    • Fakhrai-Rad, H.1    Pourmand, N.2    Ronaghi, M.3
  • 25
    • 0036195655 scopus 로고    scopus 로고
    • Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′ nuclease (TaqMan®) assay
    • Nordfors, L. et al. Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′ nuclease (TaqMan®) assay. Hum. Mutat. 19, 395-401 (2002).
    • (2002) Hum. Mutat , vol.19 , pp. 395-401
    • Nordfors, L.1
  • 26
    • 33744938449 scopus 로고    scopus 로고
    • LUMA (LUminometric Methylation Assay) - a high throughput method to the analysis of genomic DNA methylation
    • Karimi, M. et al. LUMA (LUminometric Methylation Assay) - a high throughput method to the analysis of genomic DNA methylation. Exp. Cell Res. 312, 1989-1995 (2006).
    • (2006) Exp. Cell Res , vol.312 , pp. 1989-1995
    • Karimi, M.1
  • 27
    • 0346449444 scopus 로고    scopus 로고
    • SNP genotyping on pooled DNAs: Comparison of genotyping technologies and a semi automated method for data storage and analysis
    • Le Hellard, S. et al. SNP genotyping on pooled DNAs: Comparison of genotyping technologies and a semi automated method for data storage and analysis. Nucleic Acids Res. 30, e74 (2002).
    • (2002) Nucleic Acids Res , vol.30
    • Le Hellard, S.1
  • 29
    • 0036866635 scopus 로고    scopus 로고
    • Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design
    • Barratt, B.J. et al. Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design. Ann. Hum. Genet. 66, 393-405 (2002).
    • (2002) Ann. Hum. Genet , vol.66 , pp. 393-405
    • Barratt, B.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.