Genotyping technologies for all

Drug Discovery Today: Technologies - Tập 3 - Trang 115-122 - 2006
Jiannis Ragoussis1
1Genomics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK OX3 7BN

Tài liệu tham khảo

Lander, 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062 Altshuler, 2005, A haplotype map of the human genome, Nature, 437, 1299, 10.1038/nature04226 Stranger, 2005, Genome-wide associations of gene expression variation in humans, PLoS Genet., 1, e78, 10.1371/journal.pgen.0010078 Hiller, 2006, Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing, Am. J. Hum. Genet., 78, 291, 10.1086/500151 Syvanen, 2001, Accessing genetic variation: genotyping single nucleotide polymorphisms, Nat. Rev. Genet., 2, 930, 10.1038/35103535 Gut, 2001, Automation in genotyping of single nucleotide polymorphisms, Hum. Mutat., 17, 475, 10.1002/humu.1131 Syvanen, 2005, Toward genome-wide SNP genotyping, Nat. Genet., 37, S5, 10.1038/ng1558 Breen, 2002, Novel and alternate SNP and genetic technologies, Psychiatr. Genet., 12, 83, 10.1097/00041444-200206000-00005 Shi, 2001, Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies, Clin. Chem., 47, 164, 10.1093/clinchem/47.2.164 Olivier, 2005, The Invader assay for SNP genotyping, Mutat. Res., 573, 103, 10.1016/j.mrfmmm.2004.08.016 Prince, 2001, Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation, Genome Res., 11, 152, 10.1101/gr.150201 Tapp, 2000, Homogeneous scoring of single-nucleotide polymorphisms: comparison of the 5′-nuclease TaqMan assay and Molecular Beacon probes, Biotechniques, 28, 732, 10.2144/00284rr02 Mhlanga, 2001, Using molecular beacons to detect single-nucleotide polymorphisms with real-time PCR, Methods, 25, 463, 10.1006/meth.2001.1269 Sauer, 2000, Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay, Nucleic Acids Res., 28, E100, 10.1093/nar/28.23.e100 Fakhrai-Rad, 2002, Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms, Hum. Mutat., 19, 479, 10.1002/humu.10078 Livak, 2003, SNP genotyping by the 5′-nuclease reaction, Methods Mol. Biol., 212, 129 Jurinke, 2002, The use of MassARRAY technology for high throughput genotyping, Adv. Biochem. Eng. Biotechnol., 77, 57 Storm, 2003, MALDI-TOF mass spectrometry-based SNP genotyping, Methods Mol. Biol., 212, 241 Jurinke, 2005, A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY, Mutat. Res., 573, 83, 10.1016/j.mrfmmm.2005.01.007 Ehrich, 2005, Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry, Proc. Natl. Acad. Sci. U S A, 102, 15785, 10.1073/pnas.0507816102 Bell, P.A. et al. (2002) SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques (June; Suppl.), 70–72, 74, 76–77 Denomme, 2005, High-throughput multiplex single-nucleotide polymorphism analysis for red cell and platelet antigen genotypes, Transfusion, 45, 660, 10.1111/j.1537-2995.2005.04365.x Tobler, 2005, The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping, J. Biomol. Tech., 16, 398 De la Vega, 2005, Assessment of two flexible and compatible SNP genotyping platforms: TaqMan SNP Genotyping Assays and the SNPlex Genotyping System, Mutat. Res., 573, 111, 10.1016/j.mrfmmm.2005.01.008 Oliphant, A. et al. (2002) BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques (June; Suppl.), 56–58, 60–51 Shen, 2005, High-throughput SNP genotyping on universal bead arrays, Mutat. Res., 573, 70, 10.1016/j.mrfmmm.2004.07.022 Gunderson, 2005, A genome-wide scalable SNP genotyping assay using microarray technology, Nat. Genet., 37, 549, 10.1038/ng1547 Steemers, 2006, Whole-genome genotyping with the single-base extension assay, Nat. Methods, 3, 31, 10.1038/nmeth842 Steemers, 2005, Illumina, Inc, Pharmacogenomics, 6, 777, 10.2217/14622416.6.7.777 Hardenbol, 2003, Multiplexed genotyping with sequence-tagged molecular inversion probes, Nat. Biotechnol., 21, 673, 10.1038/nbt821 Hardenbol, 2005, Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay, Genome Res., 15, 269, 10.1101/gr.3185605 Kennedy, 2003, Large-scale genotyping of complex DNA, Nat. Biotechnol., 21, 1233, 10.1038/nbt869 Matsuzaki, 2004, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays, Nat. Methods, 1, 109, 10.1038/nmeth718 Ragoussis, 2006, Affymetrix GeneChip system: moving from research to the clinic, Expert Rev. Mol. Diagn., 6, 145, 10.1586/14737159.6.2.145 Wirtenberger, 2006, Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays, Am. J. Hum. Genet., 78, 520, 10.1086/500793 Lips, 2005, Reliable high-throughput genotyping and loss-of-heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays, Cancer Res., 65, 10188, 10.1158/0008-5472.CAN-05-2486 Engle, 2006, Using high-throughput SNP technologies to study cancer, Oncogene, 25, 1594, 10.1038/sj.onc.1209368 Farrall, 2005, Gearing up for genome-wide gene-association studies, Hum. Mol. Genet., 14, R157, 10.1093/hmg/ddi273 Watkins, 2006, Genetic susceptibility to coronary artery disease: from promise to progress, Nat. Rev. Genet., 7, 163, 10.1038/nrg1805 Shastry, 2005, Genetic diversity and new therapeutic concepts, J. Hum. Genet., 50, 321, 10.1007/s10038-005-0264-6 Moorhead, 2006, Optimal genotype determination in highly multiplexed SNP data, Eur. J. Hum. Genet., 14, 207, 10.1038/sj.ejhg.5201528