메뉴 건너뛰기




Volumn 6, Issue 2, 2012, Pages 122-126

Recent patents on high-throughput single nucleotide polymorphism (SNP) genotyping methods

Author keywords

High throughput genotyping methods; Patent; Polymorphism; SNPs

Indexed keywords

DNA FRAGMENT; DNA POLYMERASE; PRIMER DNA;

EID: 84863914005     PISSN: 18722156     EISSN: None     Source Type: Journal    
DOI: 10.2174/187221512801327370     Document Type: Review
Times cited : (6)

References (52)
  • 1
    • 14944362803 scopus 로고    scopus 로고
    • National Human Genome Research Institute, Available at, (Accessed on: December 18,)
    • National Human Genome Research Institute. International Consortium Completes Human Genome Project. Available at: http://www.genome.gov/11006929 (Accessed on: December 18, 2011).
    • (2011) International Consortium Completes Human Genome Project
  • 2
    • 0035865322 scopus 로고    scopus 로고
    • A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
    • Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001; 409: 928-33.
    • (2001) Nature , vol.409 , pp. 928-933
    • Sachidanandam, R.1    Weissman, D.2    Schmidt, S.C.3
  • 3
    • 0031669184 scopus 로고    scopus 로고
    • Overlapping genomic sequences: A treasure trove of single nucleotide polymorphisms
    • Taillon-Miller P, Gu Z, Li Q, et al. Overlapping genomic sequences: a treasure trove of single nucleotide polymorphisms. Genome Res 1998; 8: 748-54.
    • (1998) Genome Res , vol.8 , pp. 748-754
    • Taillon-Miller, P.1    Gu, Z.2    Li, Q.3
  • 4
    • 84872667214 scopus 로고    scopus 로고
    • [dbsnp-announce], National Center for Biotechnology Information, Available at, (Accessed on: December 18,)
    • National Center for Biotechnology Information. [dbsnp-announce] RELEASE: NCBI dbSNP Build 135 for human. Available at: http://www.ncbi.nlm.nih.gov/mailman/pipermail/dbsnpannounce/2011q4/000108.html (Accessed on: December 18, 2011).
    • (2011) RELEASE: NCBI dbSNP Build 135 for human
  • 5
    • 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 1996; 273: 1516-7.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 6
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
    • Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 2003; 33: 228-37.
    • (2003) Nat Genet , vol.33 , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 7
    • 17144411157 scopus 로고    scopus 로고
    • Assessment of two flexible and compatible SNP genotyping platforms: TaqMan® SNP Genotyping Assays and the SNPlexTM Genotyping System
    • De La Vega FM, Lazaruk KD, Rhodes MD, et al. Assessment of two flexible and compatible SNP genotyping platforms: TaqMan® SNP Genotyping Assays and the SNPlexTM Genotyping System. Mutation Research 2005; 573: 111-35.
    • (2005) Mutation Research , vol.573 , pp. 111-135
    • de la Vega, F.M.1    Lazaruk, K.D.2    Rhodes, M.D.3
  • 8
    • 43249088516 scopus 로고    scopus 로고
    • Forensically relevant SNP classes
    • Budowle B, van Daal A. Forensically relevant SNP classes. Biotechniques 2008; 44(5): 603-8.
    • (2008) Biotechniques , vol.44 , Issue.5 , pp. 603-608
    • Budowle, B.1    van Daal, A.2
  • 9
    • 79251593331 scopus 로고    scopus 로고
    • A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups
    • Paneto GG, Köhnemann S, Martins JA, et al. A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups. Mitochondrion 2011; 11(2): 296-302.
    • (2011) Mitochondrion , vol.11 , Issue.2 , pp. 296-302
    • Paneto, G.G.1    Köhnemann, S.2    Martins, J.A.3
  • 10
    • 80052013378 scopus 로고    scopus 로고
    • Learning about human population history from ancient and modern genomes
    • Stoneking M, Krause J. Learning about human population history from ancient and modern genomes. Nat Rev Genet 2011; 12(9): 603-14.
    • (2011) Nat Rev Genet , vol.12 , Issue.9 , pp. 603-614
    • Stoneking, M.1    Krause, J.2
  • 11
    • 84872667200 scopus 로고    scopus 로고
    • National Institute of Health, Available at, (Accessed on: November 11,)
    • National Institute of Health. Near-term technology development for genome sequencing. Available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-04-002.html (Accessed on: November 11, 2011).
    • (2011) Near-term technology development for genome sequencing
  • 12
    • 84872647475 scopus 로고    scopus 로고
    • National Institute of Health, Available at, (Accessed on: November 11,)
    • National Institute of Health. Revolutionary Genome Sequencing Technologies-The $1000 Genome. Available at http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-04-003.html (Accessed on: November 11, 2011).
    • (2011) Revolutionary Genome Sequencing Technologies-The $1000 Genome
  • 13
    • 0017681196 scopus 로고
    • DNA sequencing with chainterminating inhibitors
    • Sanger F, Nicklen S, Coulson F. DNA sequencing with chainterminating inhibitors. Proc Nat Acad Sci 1976; 74 (12): 5463-7.
    • (1976) Proc Nat Acad Sci , vol.74 , Issue.12 , pp. 5463-5467
    • Sanger, F.1    Nicklen, S.2    Coulson, F.3
  • 14
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker ML. Sequencing technologies-the next generation. Nat Rev Genet 2010; 11(1): 31-46.
    • (2010) Nat Rev Genet , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 15
    • 33646555429 scopus 로고    scopus 로고
    • Microfabricated bioprocessor for integrated nanoliter-scale Sanger DNA Sequencing
    • Blazej RG, Kumaresan P, Mathies R. Microfabricated bioprocessor for integrated nanoliter-scale Sanger DNA Sequencing. Proc Nat Acad Sci 2006; 103: 7240-5.
    • (2006) Proc Nat Acad Sci , vol.103 , pp. 7240-7245
    • Blazej, R.G.1    Kumaresan, P.2    Mathies, R.3
  • 16
    • 84872656889 scopus 로고    scopus 로고
    • Available at, (Accessed on: November 02,)
    • James N. From Macro to Micro-Automated Microfluidic Sanger Sequencing. Available at: http://www.mdtmag.com/Articles/2011/08/From-Macro-to-Micro%E2%80%94Automated-Microfluidic-Sanger-Sequencing/(Accessed on: November 02, 2011).
    • (2011) From Macro to Micro-Automated Microfluidic Sanger Sequencing
    • James, N.1
  • 18
    • 34249723655 scopus 로고    scopus 로고
    • Advanced sequencing technologies and their wider impact in microbiology
    • Hall N. Advanced sequencing technologies and their wider impact in microbiology. J Exp Biol 2007; 210: 1518-25.
    • (2007) J Exp Biol , vol.210 , pp. 1518-1525
    • Hall, N.1
  • 19
    • 85055171133 scopus 로고    scopus 로고
    • Life Technologies, Available at, (Accessed on: Jan 03,)
    • Life Technologies. Next Generation Technologies Glossary. Available at: http://marketing.appliedbiosystems.com/mk/get/SOLID_KNOWLEDGE_GLOSSARY (Accessed on: Jan 03, 2012).
    • (2012) Next Generation Technologies Glossary
  • 20
    • 79953685152 scopus 로고    scopus 로고
    • The impact of next-generation sequencing on genomics
    • Zhang J, Chiodini R, Badr A, et al. The impact of next-generation sequencing on genomics. J Genet Genomics 2011; 38(3): 95-109.
    • (2011) J Genet Genomics , vol.38 , Issue.3 , pp. 95-109
    • Zhang, J.1    Chiodini, R.2    Badr, A.3
  • 21
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005; 437: 376-380.
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 22
    • 0027478270 scopus 로고
    • Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay
    • Nyren P, Pettersson B, Uhlen M. Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay. Anal Biochem 1993; 208: 171-5.
    • (1993) Anal Biochem , vol.208 , pp. 171-175
    • Nyren, P.1    Pettersson, B.2    Uhlen, M.3
  • 23
    • 0030298490 scopus 로고    scopus 로고
    • Real-time DNA sequencing using detection of pyrophosphate release
    • Ronaghi M, Karamohamed S, Pettersson B, et al. Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 1996; 242: 84-89.
    • (1996) Anal Biochem , vol.242 , pp. 84-89
    • Ronaghi, M.1    Karamohamed, S.2    Pettersson, B.3
  • 25
    • 35548973892 scopus 로고    scopus 로고
    • DNA sequencing: Bench to bedside and beyond
    • Hutchison CA. DNA sequencing: bench to bedside and beyond. Nucleic Acids Res 2007; 35(18): 6227-37.
    • (2007) Nucleic Acids Res , vol.35 , Issue.18 , pp. 6227-6237
    • Hutchison, C.A.1
  • 26
    • 0030830301 scopus 로고    scopus 로고
    • Fluorescence-based sequencing directly from bacterial and P1-derived artificial chromosomes
    • Boysen C, Simon MI, Hood L. Fluorescence-based sequencing directly from bacterial and P1-derived artificial chromosomes. Biotechniques 1997; 23(6): 978-82.
    • (1997) Biotechniques , vol.23 , Issue.6 , pp. 978-982
    • Boysen, C.1    Simon, M.I.2    Hood, L.3
  • 27
    • 0029955205 scopus 로고    scopus 로고
    • A new strategy for genome sequencing
    • Venter JC, Smith HO, Hood L. A new strategy for genome sequencing. Nature 1996; 381(6581): 364-6.
    • (1996) Nature , vol.381 , Issue.6581 , pp. 364-366
    • Venter, J.C.1    Smith, H.O.2    Hood, L.3
  • 29
    • 12444298001 scopus 로고    scopus 로고
    • Multistage isothermic sequencing by hybridization
    • Blazewicz J, Formanowic P. Multistage isothermic sequencing by hybridization. Comput Biol Chem 2005; 29(1): 69-7.
    • (2005) Comput Biol Chem , vol.29 , Issue.1 , pp. 67-69
    • Blazewicz, J.1    Formanowic, P.2
  • 33
    • 0032415283 scopus 로고    scopus 로고
    • Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays
    • Hacia JG, Sun B, Hunt N, et al. Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res 1998; 8: 1245-58.
    • (1998) Genome Res , vol.8 , pp. 1245-1258
    • Hacia, J.G.1    Sun, B.2    Hunt, N.3
  • 34
    • 70449112966 scopus 로고    scopus 로고
    • Basic concepts of microarrays and potential applications in clinical microbiology
    • Miller MB, Tang YW. Basic concepts of microarrays and potential applications in clinical microbiology. Clin Microbiol Rev 2009; 22: 611-33.
    • (2009) Clin Microbiol Rev , vol.22 , pp. 611-633
    • Miller, M.B.1    Tang, Y.W.2
  • 35
    • 0032524383 scopus 로고    scopus 로고
    • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
    • Wang DG, Fan JB, Siao CJ, et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998; 280: 1077-82.
    • (1998) Science , vol.280 , pp. 1077-1082
    • Wang, D.G.1    Fan, J.B.2    Siao, C.J.3
  • 36
    • 12144286180 scopus 로고    scopus 로고
    • Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array
    • Matsuzaki H, Loi H, Dong S, et al. Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array. Genome Res 2004; 14: 414-25.
    • (2004) Genome Res , vol.14 , pp. 414-425
    • Matsuzaki, H.1    Loi, H.2    Dong, S.3
  • 37
    • 20844455582 scopus 로고    scopus 로고
    • Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
    • Matsuzaki H, Dong S, Loi H, et al. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods 2004; 1: 109-11.
    • (2004) Nat Methods , vol.1 , pp. 109-111
    • Matsuzaki, H.1    Dong, S.2    Loi, H.3
  • 38
    • 84872657346 scopus 로고    scopus 로고
    • Affymetrix, DNA Arrays and Reagents. Data Sheet. Available at, (Accessed on: December 02,)
    • Affymetrix. Genome-Wide Human SNP Array 6.0. DNA Arrays and Reagents. Data Sheet. Available at: http://www.cegen.org/images/genomewide_snp6_datasheet.pdf. (Accessed on: December 02, 2011).
    • (2011) Genome-Wide Human SNP Array 6.0
  • 39
    • 18144425478 scopus 로고    scopus 로고
    • A genome-wide scalable SNP genotyping assay using microarray technology
    • Gunderson KL, Steemers FJ, Lee G, et al. A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 2005; 37: 549-54.
    • (2005) Nat Genet , vol.37 , pp. 549-554
    • Gunderson, K.L.1    Steemers, F.J.2    Lee, G.3
  • 40
    • 84872653884 scopus 로고    scopus 로고
    • Illumina, Inc, Data Sheet: Genome-Wide DNA Analysis BeadChips. Available at, (Accessed on: January 02,)
    • Illumina, Inc. DNA Analysis. Data Sheet: Genome-Wide DNA Analysis BeadChips. Available at: http://www.illumina.com/Documents/products/datasheets/datasheet_infiniumhd.pdf (Accessed on: January 02, 2012).
    • (2012) DNA Analysis
  • 41
    • 53649108801 scopus 로고    scopus 로고
    • The Potential and Challenges of Nanopore Sequencing
    • Branton D, Deamer DW, Marziali A, et al. The Potential and Challenges of Nanopore Sequencing. Nat Biotechnol 2008; 26(10): 1146-1153.
    • (2008) Nat Biotechnol , vol.26 , Issue.10 , pp. 1146-1153
    • Branton, D.1    Deamer, D.W.2    Marziali, A.3
  • 42
    • 64449088698 scopus 로고    scopus 로고
    • Continuous base identification for single-molecule nanopore DNA sequencing
    • Clarke J, Wu H-C, Jayasinghe L, et al. Continuous base identification for single-molecule nanopore DNA sequencing. Nature Nanotechnol 2009; 4: 265-270.
    • (2009) Nature Nanotechnol , vol.4 , pp. 265-270
    • Clarke, J.1    Wu, H.-C.2    Jayasinghe, L.3
  • 43
    • 0035139370 scopus 로고    scopus 로고
    • MALDI-TOF-MS Analysis of Protein and DNA
    • Bonk T, Humeny A. MALDI-TOF-MS Analysis of Protein and DNA. Neuroscientist 2001; 7: 6-12.
    • (2001) Neuroscientist , vol.7 , pp. 6-12
    • Bonk, T.1    Humeny, A.2
  • 44
    • 84863913161 scopus 로고    scopus 로고
    • Single Nucleotide Polymorphism (SNP) Genotyping Techniques-An Overview
    • Twyman RM. Single Nucleotide Polymorphism (SNP) Genotyping Techniques-An Overview. Encycl Diagn Genomics Proteomics 2005; 240: 1202-7.
    • (2005) Encycl Diagn Genomics Proteomics , vol.240 , pp. 1202-1207
    • Twyman, R.M.1
  • 45
    • 4344718528 scopus 로고    scopus 로고
    • MALDI-TOF Mass Spectrometry: A versatile tool for high-Performance DNA analysis
    • Jurinke C, Oeth P, van den Boom D. MALDI-TOF Mass Spectrometry: a versatile tool for high-Performance DNA analysis. Molecular Biotech 2004; 26(2): 147-64.
    • (2004) Molecular Biotech , vol.26 , Issue.2 , pp. 147-164
    • Jurinke, C.1    Oeth, P.2    van den Boom, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.