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Volumn 3, Issue 11, 2002, Pages 862-871

DNA pooling: A tool for large-scale association studies

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0036844881     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg930     Document Type: Review
Times cited : (492)

References (80)
  • 1
    • 0034660559 scopus 로고    scopus 로고
    • Searching for genetic determinants in the new millennium
    • Risch, N. J. Searching for genetic determinants in the new millennium, Nature 405, 847-856 (2002).
    • (2002) Nature , vol.405 , pp. 847-856
    • Risch, N.J.1
  • 2
    • 0035257236 scopus 로고    scopus 로고
    • Association study designs for complex disease
    • Cardon, L. R. Bell, J. I. Association study designs for complex disease. Nature Rev. Genet. 2, 91-99 (2001).
    • (2001) Nature Rev. Genet. , vol.2 , pp. 91-99
    • Cardon, L.R.1    Bell, J.I.2
  • 3
    • 0036255811 scopus 로고    scopus 로고
    • Candidate-gene approaches for studying complex traits: Practical considerations
    • Tabor, H. K., Risch, N. J. Myers, R. M. Candidate-gene approaches for studying complex traits: Practical considerations. Nature Rev. Genet. 3, 1-7 (2002).
    • (2002) Nature Rev. Genet. , vol.3 , pp. 1-7
    • Tabor, H.K.1    Risch, N.J.2    Myers, R.M.3
  • 4
    • 0035654137 scopus 로고    scopus 로고
    • Accessing genetic variation: Genotyping single nucleotide polymorphisms
    • Syvanen, A. C. Accessing genetic variation: Genotyping single nucleotide polymorphisms. Nature Rev. Genet. 2, 930-942 (2001). This review provides a good introduction to SNP-genotyping methods.
    • (2001) Nature Rev. Genet. , vol.2 , pp. 930-942
    • Syvanen, A.C.1
  • 5
    • 0001243071 scopus 로고
    • The detection of defective members of large populations
    • Dorfman, R. The detection of defective members of large populations. Ann. Math. Stat. 14, 436-440 (1943).
    • (1943) Ann. Math. Stat. , vol.14 , pp. 436-440
    • Dorfman, R.1
  • 6
    • 0000973616 scopus 로고
    • Estimation of the proportion of vectors in a natural population of insects
    • Thompson, K. H. Estimation of the proportion of vectors in a natural population of insects. Biometrics 18, 568-578 (1962).
    • (1962) Biometrics , vol.18 , pp. 568-578
    • Thompson, K.H.1
  • 7
    • 85041935940 scopus 로고
    • Group testing with a new goal, estimation
    • Sobel, M. Elashoff, R. M. Group testing with a new goal, estimation. Beometrics 62, 181-193 (1975).
    • (1975) Beometrics , vol.62 , pp. 181-193
    • Sobel, M.1    Elashoff, R.M.2
  • 8
    • 0001923791 scopus 로고
    • On the informativeness and accuracy of pooled testing in estimating prevalence of a rare disease: Application to HIV screening
    • Tu, X. M., Litvak, E. Pagano, M. On the informativeness and accuracy of pooled testing in estimating prevalence of a rare disease: Application to HIV screening. Biometrika 82, 287-297 (1995).
    • (1995) Biometrika , vol.82 , pp. 287-297
    • Tu, X.M.1    Litvak, E.2    Pagano, M.3
  • 9
    • 0033005491 scopus 로고    scopus 로고
    • Analysis of multistage pooling studies of biological specimens for estimating disease incidence and prevalence
    • Brookmeyer, R. Analysis of multistage pooling studies of biological specimens for estimating disease incidence and prevalence. Biometrics 55, 608-612 (1999).
    • (1999) Biometrics , vol.55 , pp. 608-612
    • Brookmeyer, R.1
  • 10
    • 0032887131 scopus 로고    scopus 로고
    • Using pooled exposure assessment to improve efficiency in case-control studies
    • Weinberg, C. R. Umbach, D. M. Using pooled exposure assessment to improve efficiency in case-control studies. Biometrics 55, 718-726 (1999).
    • (1999) Biometrics , vol.55 , pp. 718-726
    • Weinberg, C.R.1    Umbach, D.M.2
  • 11
    • 33645192521 scopus 로고
    • Estimation of the prevalence of a rare disease, preserving the anonymity of the subjects by group testing: Application to estimating the prevalence of AIDS antibodies in blood
    • Gastwirth, J. L. Hammick, P. A. Estimation of the prevalence of a rare disease, preserving the anonymity of the subjects by group testing: Application to estimating the prevalence of AIDS antibodies in blood. J. Stat. Planning Inference 22, 15-27 (1989).
    • (1989) J. Stat. Planning Inference , vol.22 , pp. 15-27
    • Gastwirth, J.L.1    Hammick, P.A.2
  • 12
    • 84891458999 scopus 로고
    • Screening with cost effective quality control: Potential application to HIV and drug testing
    • Gastwirth, J. L. Johnson, W. Screening with cost effective quality control: Potential application to HIV and drug testing. J. Am. Stat. Assoc. 89, 972-981 (1994).
    • (1994) J. Am. Stat. Assoc. , vol.89 , pp. 972-981
    • Gastwirth, J.L.1    Johnson, W.2
  • 13
    • 0345350737 scopus 로고
    • Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restnction fragments and human disease: Studies of HLA class II loci
    • Arnheim, N. Strange, C. Erlich, H. Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restnction fragments and human disease: studies of HLA class II loci. Proc. Natl Acad. Sci. USA 82, 6970-8974 (1985).
    • (1985) Proc. Natl. Acad. Sci. USA , vol.82 , pp. 6970-8974
    • Arnheim, N.1    Strange, C.2    Erlich, H.3
  • 14
    • 0026052189 scopus 로고
    • Identification of markers linked to disease-resistance genes by bulked segregant analysis: A rapid method to detect markers in specific genomic regions by using segregating populations
    • Michelmore, R. W., Paran, I. Kesseli, R. V Identification of markers linked to disease-resistance genes by bulked segregant analysis: A rapid method to detect markers in specific genomic regions by using segregating populations. Proc. Natl Acad. Sci. USA 88, 9828-9832 (1991).
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 9828-9832
    • Michelmore, R.W.1    Paran, I.2    Kesseli, R.V.3
  • 15
    • 0028000502 scopus 로고
    • Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
    • Sheffield, V. C. et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum. Mol. Genet. 3, 1331-1335 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1331-1335
    • Sheffield, V.C.1
  • 16
    • 0028851065 scopus 로고
    • Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
    • Carmi, R. et al. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum. Mol. Genet. 4, 9-13 (1995). An example of the successful application of pooling.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 9-13
    • Carmi, R.1
  • 17
    • 0029925102 scopus 로고    scopus 로고
    • A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
    • Nystuen, A., Benke, P. J., Merren, J., Stone, E. M. Sheffield, V. C. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum. Mol. Genet. 5, 525-531 (1996)
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 525-531
    • Nystuen, A.1    Benke, P.J.2    Merren, J.3    Stone, E.M.4    Sheffield, V.C.5
  • 18
    • 0029811339 scopus 로고    scopus 로고
    • An autosomal recessive non-syndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
    • Scott, D. A. et al. An autosomal recessive non-syndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59, 385-391 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 385-391
    • Scott, D.A.1
  • 19
    • 0033941495 scopus 로고    scopus 로고
    • DNA pooling in mutation detection with reference to sequence analysis
    • Amos, C. I., Frazier, M. L. Wang, W. DNA pooling in mutation detection with reference to sequence analysis. Am. J. Hum. Genet. 66, 1689-1692 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1689-1692
    • Amos, C.I.1    Frazier, M.L.2    Wang, W.3
  • 20
    • 0027485238 scopus 로고
    • Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplifed from pooled samples
    • Pacek, P., Sajantila, A. Syvanen, A. C. Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplifed from pooled samples PCR Methods Appl. 2, 313-317 (1993).
    • (1993) PCR Methods Appl. , vol.2 , pp. 313-317
    • Pacek, P.1    Sajantila, A.2    Syvanen, A.C.3
  • 21
    • 0030763566 scopus 로고    scopus 로고
    • Association mapping of disease loci, by use of a pooled DNA genomic screen
    • Barcellos, L. F. et al. Association mapping of disease loci, by use of a pooled DNA genomic screen. Am. J. Hum. Genet. 61,737-747 (1997).
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 737-747
    • Barcellos, L.F.1
  • 22
    • 0031981997 scopus 로고    scopus 로고
    • A simple method for analysing microsatellite allele image patterns generated from DNA pools and its applications to allelic association studies
    • Daniels, J. et al. A simple method for analysing microsatellite allele image patterns generated from DNA pools and its applications to allelic association studies. Am. J. Hum. Genet. 62, 1189-1197 (1998).
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1189-1197
    • Daniels, J.1
  • 23
    • 0031889566 scopus 로고    scopus 로고
    • Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes
    • Shaw, S. H., Carrasquillo, M. M., Kashuk, C. Puffenberger, E. G. Chakravarti, A. Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes. Genome Res. 8, 111-123 (1998).
    • (1998) Genome Res. , vol.8 , pp. 111-123
    • Shaw, S.H.1    Carrasquillo, M.M.2    Kashuk, C.3    Puffenberger, E.G.4    Chakravarti, A.5
  • 24
    • 0034454582 scopus 로고    scopus 로고
    • Automated genotyping of single-nucleotide polymorphisms by extension of fluorescently labelled primers: Analysis of individual and pooled DNA samples
    • Kirov, G., Stephens, M., Williams, N., O'Donovan, M. Owen, M. Automated genotyping of single-nucleotide polymorphisms by extension of fluorescently labelled primers: analysis of individual and pooled DNA samples. Balkan J. Med. Genet. 3, 23-28 (2000).
    • (2000) Balkan J. Med. Genet. , vol.3 , pp. 23-28
    • Kirov, G.1    Stephens, M.2    Williams, N.3    O'Donovan, M.4    Owen, M.5
  • 25
    • 17744380449 scopus 로고    scopus 로고
    • Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools
    • Hoogendoorn, B. et al. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum. Genet. 107, 488-493 (2000).
    • (2000) Hum. Genet. , vol.107 , pp. 488-493
    • Hoogendoorn, B.1
  • 26
    • 0034090681 scopus 로고    scopus 로고
    • High-throughput SNP allele frequency determination in pooled DNA samples by kinetic PCR
    • Germer S., Holland, M. J. Higuchi, R. High-throughput SNP allele frequency determination in pooled DNA samples by kinetic PCR. Genome Res. 10, 258-266 (2000).
    • (2000) Genome Res. , vol.10 , pp. 258-266
    • Germer, S.1    Holland, M.J.2    Higuchi, R.3
  • 27
    • 0033818174 scopus 로고    scopus 로고
    • Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry
    • Ross, P., Hall, L. Haff, L. A. Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry. Biotechniques 29, 620-626, 628-629 (2000).
    • (2000) Biotechniques , vol.29 , pp. 620-626
    • Ross, P.1    Hall, L.2    Haff, L.A.3
  • 29
    • 0035158426 scopus 로고    scopus 로고
    • Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA
    • Sasaki, T. et al. Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA. Am. J. Hum. Genet. 68, 214-218 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 214-218
    • Sasaki, T.1
  • 30
    • 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
  • 31
    • 18244402218 scopus 로고    scopus 로고
    • A genome-wide scan of 1847 DNA markers for allelb associations with general cognitive ability: A five-stage design using DNA pooling
    • Plomin, R. et al. A genome-wide scan of 1847 DNA markers for allelb associations with general cognitive ability: A five-stage design using DNA pooling. Behav Genet. 31, 497-509 (2002). This study illustrates the use of pooling as an efficient screening tool in a multi-stage design.
    • (2002) Behav Genet. , vol.31 , pp. 497-509
    • Plomin, R.1
  • 32
    • 0011301822 scopus 로고    scopus 로고
    • Validation of single nucleotide polymorphism (SNP) quantification in pooled DNA samples using SNAPIT™ technology, a glycosylase-mediated polymorphism detection method
    • in the press
    • Curran, S. et al. Validation of single nucleotide polymorphism (SNP) quantification in pooled DNA samples using SNAPIT™ technology, a glycosylase-mediated polymorphism detection method. Biotechniques (in the press).
    • Biotechniques
    • Curran, S.1
  • 33
    • 0013231550 scopus 로고    scopus 로고
    • eds Plomin, R., DeFries, J., Craig, I. McGuffin, P, APA Books, Washington, DC
    • Craig, I. W. McClay, J. in Behavioral Genetics in the Post-genomics Era (eds Plomin, R., DeFries, J., Craig, I. McGuffin, P) 19-40 (APA Books, Washington, DC, 2002). This book reviews genotyping methods for microsatellite and SNP markers, with comments on pooling strategy.
    • (2002) Behavioral Genetics in the Post-genomics Era , pp. 19-40
    • Craig, I.W.1    McClay, J.2
  • 34
    • 0032004378 scopus 로고    scopus 로고
    • A novel process for mutation detection using uracil DNA-glycosylase
    • Vaughan, P. McCarthy, T. V. A novel process for mutation detection using uracil DNA-glycosylase Nucleic Acids Res 26, 810-815 (1998).
    • (1998) Nucleic Acids Res. , vol.26 , pp. 810-815
    • Vaughan, P.1    McCarthy, T.V.2
  • 35
    • 0025650533 scopus 로고
    • A primer-guided nuclectide incorporation assay in the genotyping of apolipoprotein E
    • Syvanen, A. C., Aalto-Setala, K., Kontula, K. Sodedund, H. A primer-guided nuclectide incorporation assay in the genotyping of apolipoprotein E. Genomics 8, 684-492 (1990).
    • (1990) Genomics , vol.8 , pp. 684-692
    • Syvanen, A.C.1    Aalto-Setala, K.2    Kontula, K.3    Sodedund, H.4
  • 36
    • 0038217407 scopus 로고    scopus 로고
    • From gels to chips: 'Minisaquencing' primer extension for analysis of point mutations and single nucleotide polymorphisms
    • Syvanen, A. C. From gels to chips: 'minisaquencing' primer extension for analysis of point mutations and single nucleotide polymorphisms. Hum. Mutat. 13, 1-10 (1999).
    • (1999) Hum. Mutat. , vol.13 , pp. 1-10
    • Syvanen, A.C.1
  • 37
    • 0030059841 scopus 로고    scopus 로고
    • Rapid detection of mitochondrial sequence polymorphisms using mutiplex solid phase fluorescent minisequencing
    • Tully, G. Sullivan, K. M., Nixon, P. Stones, R. E. Gill, P. Rapid detection of mitochondrial sequence polymorphisms using mutiplex solid phase fluorescent minisequencing. Genomics 34, 107-113 (1996).
    • (1996) Genomics , vol.34 , pp. 107-113
    • Tully, G.1    Sullivan, K.M.2    Nixon, P.3    Stones, R.E.4    Gill, P.5
  • 38
    • 0033865806 scopus 로고    scopus 로고
    • A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays
    • Pastinen, T. et al. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res. 10, 1031-1042 (2000).
    • (2000) Genome Res. , vol.10 , pp. 1031-1042
    • Pastinen, T.1
  • 39
    • 0030852959 scopus 로고    scopus 로고
    • Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry
    • Braun, A. Little, D. P. Koster, H. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin. Chem. 43, 1151-1158 (1997).
    • (1997) Clin. Chem. , vol.43 , pp. 1151-1158
    • Braun, A.1    Little, D.P.2    Koster, H.3
  • 40
    • 0036195655 scopus 로고    scopus 로고
    • Large-scale genotyping of single nucleotide polymorphisms by pyrosequencing and validation against the 5′ nuclease (TaqMan) assay
    • Nordfors, I. et al. Large-scale genotyping of single nucleotide polymorphisms by pyrosequencing and validation against the 5′ nuclease (TaqMan) assay. Hum. Mutat. 19, 395-401 (2000).
    • (2000) Hum. Mutat. , vol.19 , pp. 395-401
    • Nordfors, I.1
  • 41
    • 0036590014 scopus 로고    scopus 로고
    • Estimation of single nuclectide polymorphism allele frequency in DNA pools by using pyrosequencing
    • Gruber, J. D., Colligan, P. B. Wolford, J. K. Estimation of single nuclectide 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
  • 42
    • 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. Bictechniques 32, 1144-1152 (2002)
    • (2002) Bictechniques , vol.32 , pp. 1144-1152
    • Wasson, J.1    Skolnick, G.2    Love-Gregory, L.3    Permutt, M.A.4
  • 43
    • 0036301060 scopus 로고    scopus 로고
    • Large scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectroscopy
    • Werner, M. et al. Large scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectroscopy. Hum. Mutat 20, 57-64 (2002).
    • (2002) Hum. Mutat. , vol.20 , pp. 57-64
    • Werner, M.1
  • 44
    • 0033936872 scopus 로고    scopus 로고
    • Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
    • Fan, J. B. et al. Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res. 10, 853-860 (2000).
    • (2000) Genome Res. , vol.10 , pp. 853-860
    • Fan, J.B.1
  • 45
    • 0032415283 scopus 로고    scopus 로고
    • Strategies for mutation analysis of the large multi-exon ATM gene using high-density oligonucleotide arrays
    • Hacia, J. G. et al. Strategies for mutation analysis of the large multi-exon ATM gene using high-density oligonucleotide arrays. Genome Res. 8, 1245-1258 (1998).
    • (1998) Genome Res. , vol.8 , pp. 1245-1258
    • Hacia, J.G.1
  • 46
    • 0033046861 scopus 로고    scopus 로고
    • Single tube genotyping without oligonucleotide probes
    • Germer, S. Higuchi, R. Single tube genotyping without oligonucleotide probes. Genome Res. 9, 72-78 (1999).
    • (1999) Genome Res. , vol.9 , pp. 72-78
    • Germer, S.1    Higuchi, R.2
  • 47
    • 0037083663 scopus 로고    scopus 로고
    • High-throughput single-nucleotide polymorphism genotyping by fluorescent competitive allele-specific polymerase chain reaction (SNIPTag)
    • McClay, J., Sugden, K., Koch, H. G. Higuchi, S. Craig, I. W. High-throughput single-nucleotide polymorphism genotyping by fluorescent competitive allele-specific polymerase chain reaction (SNIPTag). Anal. Biochem. 301, 200-206 (2002).
    • (2002) Anal. Biochem. , vol.301 , pp. 200-206
    • McClay, J.1    Sugden, K.2    Koch, H.G.3    Higuchi, S.4    Craig, I.W.5
  • 48
    • 0033006003 scopus 로고    scopus 로고
    • Allelic discrimination using fluorogenmeic probes and the 5′ nuclease assay
    • Livak, K. J. Allelic discrimination using fluorogenmeic probes and the 5′ nuclease assay. Genet. Anal. 14, 143-149 (1999).
    • (1999) Genet. Anal. , vol.14 , pp. 143-149
    • Livak, K.J.1
  • 49
    • 0035209299 scopus 로고    scopus 로고
    • Polysubstance abuse - Vulnerability genes: Genome scans for association, using 1,004 subjects and 1,494 single nucleotide polymorphisms
    • Uhl, G., Liu, Q.-R., Walther, W., Hess, J. Naiman, D. Polysubstance abuse - Vulnerability genes: Genome scans for association, using 1,004 subjects and 1,494 single nucleotide polymorphisms. Am. J. Hum. Genet. 69, 1290-1300 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1290-1300
    • Uhl, G.1    Liu, Q.-R.2    Walther, W.3    Hess, J.4    Naiman, D.5
  • 50
    • 0025861818 scopus 로고
    • Detection of specific polymerase chain reaction product by utilizing the 5′ to 3′ exonuclease activity of Thermus aquaticus polymerase
    • Holland, P. M., Abramson, R. D., Watson, R. Gelfland, D. H. Detection of specific polymerase chain reaction product by utilizing the 5′ to 3′ exonuclease activity of Thermus aquaticus polymerase. Proc. Natl Acad. Sci. USA 88, 7276-7280 (1991).
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 7276-7280
    • Holland, P.M.1    Abramson, R.D.2    Watson, R.3    Gelfland, D.H.4
  • 51
    • 14744306436 scopus 로고
    • Simultaneous amplification and detection of specific DNA sequences
    • Higuchi, R. G., Dolligenger, P. S., Walsh, P. S. Griffith, R. Simultaneous amplification and detection of specific DNA sequences. Biotechnology 10, 413-417 (1992).
    • (1992) Biotechnology , vol.10 , pp. 413-417
    • Higuchi, R.G.1    Dolligenger, P.S.2    Walsh, P.S.3    Griffith, R.4
  • 52
    • 0031440932 scopus 로고    scopus 로고
    • Fluorotyping of HLA-C: Differential detection on amplicons by sequence-specific priming and fluorogenic probing
    • Luedeck, H. Blascyk, R. Fluorotyping of HLA-C: differential detection on amplicons by sequence-specific priming and fluorogenic probing. Tissue Antigens 50, 627-638 (1997).
    • (1997) Tissue Antigens , vol.50 , pp. 627-638
    • Luedeck, H.1    Blascyk, R.2
  • 53
    • 0011343238 scopus 로고    scopus 로고
    • SNP genotyping on pooled DNAs: Comparison of genotyping technologies and a semi automated method for data storage and analysis
    • in the press
    • 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. (in the press). This paper describes the correction of differential amplification and assesses the accuracy of allele-frequency estimation in pooled samples.
    • Nucleic Acids Res.
    • Le Hellard, S.1
  • 54
    • 0011355352 scopus 로고    scopus 로고
    • Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design
    • in the press
    • 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. (in the press). This paper considers the sources of errors in the estimation of allele frequency in pooled samples and proposes the use of multiple pools, each containing DNA from a small number of individuals.
    • Ann. Hum. Genet.
    • Barratt, B.J.1
  • 55
    • 0000913325 scopus 로고    scopus 로고
    • Efficient SNP-based tests of association for quantitative phenotypes using pooled DNA
    • Bader, J. S., Bansal, A. Sham, P. C. Efficient SNP-based tests of association for quantitative phenotypes using pooled DNA. GeneScreen 1, 143-150 (2001). A mathematical description of the optimal pooling study designs for analysing quantitative phenotypes.
    • (2001) GeneScreen , vol.1 , pp. 143-150
    • Bader, J.S.1    Bansal, A.2    Sham, P.C.3
  • 57
    • 0011259781 scopus 로고    scopus 로고
    • Family-based association tests for quantitative traits using pooled DNA
    • in the press
    • Bader, J. S. Sham, P. C. Family-based association tests for quantitative traits using pooled DNA. Eur J. Hum. Genet. (in the press).
    • Eur. J. Hum. Genet.
    • Bader, J.S.1    Sham, P.C.2
  • 58
    • 0000206273 scopus 로고
    • On some useful 'Inefficient statistics'
    • Mosteler, F. On some useful 'Inefficient statistics'. Ann. Math. Stat. 17, 377-408 (1946).
    • (1946) Ann. Math. Stat. , vol.17 , pp. 377-408
    • Mosteler, F.1
  • 59
    • 0015071175 scopus 로고
    • Design and effciency of selection experiments for estimating genetic parameters
    • Hill, W. G. Design and effciency of selection experiments for estimating genetic parameters. Biometrics 27, 293-311 (1971).
    • (1971) Biometrics , vol.27 , pp. 293-311
    • Hill, W.G.1
  • 60
    • 3142698362 scopus 로고
    • Effect of overall phenotypic selection on genetic change at individual loci
    • Kimura, M. Crow, J. F. Effect of overall phenotypic selection on genetic change at individual loci. Proc. Natl. Acad. Sci. USA 75, 6168-6171 (1978).
    • (1978) Proc. Natl. Acad. Sci. USA , vol.75 , pp. 6168-6171
    • Kimura, M.1    Crow, J.F.2
  • 61
    • 0030752694 scopus 로고    scopus 로고
    • The use of selection experiments for detecting quantitative trait loci
    • Ollivier, L., Messer, L. A., Rothschild, M. F. Legault, C. The use of selection experiments for detecting quantitative trait loci. Genet. Res. 69, 227-232 (1997).
    • (1997) Genet. Res. , vol.69 , pp. 227-232
    • Ollivier, L.1    Messer, L.A.2    Rothschild, M.F.3    Legault, C.4
  • 62
    • 0345031640 scopus 로고
    • Group testing for sensitive characteristics: Extension to higher prevalence levels
    • Hammick, P. A. Gastwirth, J. L. Group testing for sensitive characteristics: extension to higher prevalence levels. Int. Stat. Rev. 62, 319-331 (1994).
    • (1994) Int. Stat. Rev. , vol.62 , pp. 319-331
    • Hammick, P.A.1    Gastwirth, J.L.2
  • 63
    • 0033358548 scopus 로고    scopus 로고
    • Use of unlinked genetic markets to detect population stratification in association studies
    • Pritchard, J. K. Rosenberg, N. A. Use of unlinked genetic markets to detect population stratification in association studies. Am. J. Hum. Genet. 65, 220-228 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 220-228
    • Pritchard, J.K.1    Rosenberg, N.A.2
  • 64
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin, B. Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 66
    • 0035121797 scopus 로고    scopus 로고
    • Accounting for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model
    • Satten G. A., Flanders, W. D. Yang, Q. Accounting for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model. Am. J. Hum. Genet. 68, 466-477 (2001).
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 466-477
    • Satten, G.A.1    Flanders, W.D.2    Yang, Q.3
  • 67
    • 0034893786 scopus 로고    scopus 로고
    • Quantitative similarity-based association tests using population samples
    • Zhang, S. Zhao, H. Quantitative similarity-based association tests using population samples. Am. J. Hum. Genet 69, 601-614 (2001).
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 601-614
    • Zhang, S.1    Zhao, H.2
  • 68
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman, R. S., McGinnis, R. E. Ewens, W. J. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52, 506-516 (1993).
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 69
    • 0030669122 scopus 로고    scopus 로고
    • Use of siblings as controls in case-control association studies
    • Curtis, D. Use of siblings as controls in case-control association studies. Ann. Hum. Genet. 61, 319-333 (1997).
    • (1997) Ann. Hum. Genet. , vol.61 , pp. 319-333
    • Curtis, D.1
  • 70
    • 0033954077 scopus 로고    scopus 로고
    • Pooled genotyping of microsatellite markers in parent-offspring trios
    • Kirov, G., Williams, N., Sham, P., Craddock, N. Owen, M. J. Pooled genotyping of microsatellite markers in parent-offspring tdos. Genome Res. 10, 105-115 (2000).
    • (2000) Genome Res. , vol.10 , pp. 105-115
    • Kirov, G.1    Williams, N.2    Sham, P.3    Craddock, N.4    Owen, M.J.5
  • 71
    • 0032427048 scopus 로고    scopus 로고
    • The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases
    • Risch, N. Teng, J. The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases. Genome Res. 8, 1273-1288 (1998). A key paper that discusses the design of pooling studies for family-based association studies.
    • (1998) Genome Res. , vol.8 , pp. 1273-1288
    • Risch, N.1    Teng, J.2
  • 72
    • 0035058585 scopus 로고    scopus 로고
    • Haplotypes vs single marker linkage disequilibrium tests: What do we gain?
    • Akey, J., Jin, L. Xiong, M. Haplotypes vs single marker linkage disequilibrium tests: What do we gain? Eur. J. Hum. Genet. 9, 291-300 (2001).
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 291-300
    • Akey, J.1    Jin, L.2    Xiong, M.3
  • 73
    • 0033942186 scopus 로고    scopus 로고
    • A coalescent approach to study linkage disequilibrium between single nucleotide polymorphisms
    • Zoliner, S. von Haessler, A. A coalescent approach to study linkage disequilibrium between single nucleotide polymorphisms. Am. J. Hum. Genet 66, 615-628 (2000).
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 615-628
    • Zoliner, S.1    Von Haessler, A.2
  • 74
    • 0033863391 scopus 로고    scopus 로고
    • SNPing away at complex disease: Analysis of single-nucleotide polymorphisms around APOE in Alzheimer's disease
    • Martin, E. R. et al. SNPing away at complex disease: analysis of single-nucleotide polymorphisms around APOE in Alzheimer's disease. Am. J. Hum. Genet. 67, 383-394 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 383-394
    • Martin, E.R.1
  • 75
    • 0032827782 scopus 로고    scopus 로고
    • The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits
    • Long, A D. Langley, C. H. The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res. 9, 720-731 (1999).
    • (1999) Genome Res. , vol.9 , pp. 720-731
    • Long, A.D.1    Langley, C.H.2
  • 76
    • 0034930262 scopus 로고    scopus 로고
    • The relative power of SNPs and haplotype as genetic markers for association tests
    • Bader, J. S. The relative power of SNPs and haplotype as genetic markers for association tests. Pharmacogenomics 2, 11-24 (2001).
    • (2001) Pharmacogenomics , vol.2 , pp. 11-24
    • Bader, J.S.1
  • 77
    • 0036138925 scopus 로고    scopus 로고
    • Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium
    • Pfeiffer, R. M., Rutter J. L., Gail, M. H., Struewing, J. Gastwirth, J. L Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium. Genet. Epidemiol. 22, 94-102 (2002).
    • (2002) Genet. Epidemiol. , vol.22 , pp. 94-102
    • Pfeiffer, R.M.1    Rutter, J.L.2    Gail, M.H.3    Struewing, J.4    Gastwirth, J.L.5
  • 79
    • 0030890116 scopus 로고    scopus 로고
    • Single-nuclectide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry
    • Haff, L. A. Smirnov, I. P. Single-nuclectide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res. 7, 378-388 (1997).
    • (1997) Genome Res. , vol.7 , pp. 378-388
    • Haff, L.A.1    Smirnov, I.P.2
  • 80
    • 0035487816 scopus 로고    scopus 로고
    • Quantitative detection of single nucleotide polymorphisms for a pooled DNA sample by a bioluminometric assay coupled with modified primer extension reactions (BAMBER)
    • Zhou, G.-H. et al. Quantitative detection of single nucleotide polymorphisms for a pooled DNA sample by a bioluminometric assay coupled with modified primer extension reactions (BAMBER). Nucleic Acids Res. 29, E93 (2001).
    • (2001) Nucleic Acids Res. , vol.29 , pp. E93
    • Zhou, G.-H.1


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