Nucleic Acids Research, Vol 25, Issue 14 2745-2751, Copyright © 1997 by Oxford University Press
DA Nickerson, VO Tobe and SL Taylor
Fluorescence-based sequencing is playing an increasingly important role in
efforts to identify DNA polymorphisms and mutations of biological and
medical interest. The application of this technology in generating the
reference sequence of simple and complex genomes is also driving the
development of new computer programs to automate base calling (Phred),
sequence assembly (Phrap) and sequence assembly editing (Consed) in high
throughput settings. In this report we describe a new computer program
known as PolyPhred that automatically detects the presence of heterozygous
single nucleotide substitutions by fluorescencebased sequencing of PCR
products. Its operations are integrated with the use of the Phred, Phrap
and Consed programs and together these tools generate a high throughput
system for detecting DNA polymorphisms and mutations by large scale
fluorescence-based resequencing. Analysis of sequences containing known DNA
variants demonstrates that the accuracy of PolyPhred with single pass data
is >99% when the sequences are generated with fluorescent dye-labeled
primers and approximately 90% for those prepared with dye-labeled
terminators.
ARTICLES
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
Department of Molecular Biotechnology, Box 357730, University of Washington, Seattle, WA 98195-7730, USA. debnick@u.washington.edu
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|
|
|
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|
|
|
 |
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
E. Dicks, J. W. Teague, P. Stephens, K. Raine, A. Yates, C. Mattocks, P. Tarpey, A. Butler, A. Menzies, D. Richardson, et al. AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes Bioinformatics, July 1, 2007; 23(13): 1689 - 1691. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 B. M. Riley, M. A. Mansilla, J. Ma, S. Daack-Hirsch, B. S. Maher, L. M. Raffensperger, E. T. Russo, A. R. Vieira, C. Dode, M. Mohammadi, et al. Impaired FGF signaling contributes to cleft lip and palate PNAS, March 13, 2007; 104(11): 4512 - 4517. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. K. Shimada, K. Panchapakesan, S. A. Tishkoff, A. Q. Nato Jr, and J. Hey Divergent Haplotypes and Human History as Revealed in a Worldwide Survey of X-Linked DNA Sequence Variation Mol. Biol. Evol., March 1, 2007; 24(3): 687 - 698. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
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|
|
|
|
|
|
W. Barendse, R. J. Bunch, J. W. Kijas, and M. B. Thomas The Effect of Genetic Variation of the Retinoic Acid Receptor-Related Orphan Receptor C Gene on Fatness in Cattle Genetics, February 1, 2007; 175(2): 843 - 853. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 H.-J. Lenz, E. Van Cutsem, S. Khambata-Ford, R. J. Mayer, P. Gold, P. Stella, B. Mirtsching, A. L. Cohn, A. W. Pippas, N. Azarnia, et al. Multicenter Phase II and Translational Study of Cetuximab in Metastatic Colorectal Carcinoma Refractory to Irinotecan, Oxaliplatin, and Fluoropyrimidines J. Clin. Oncol., October 20, 2006; 24(30): 4914 - 4921. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
K. L. Bubb, D. Bovee, D. Buckley, E. Haugen, M. Kibukawa, M. Paddock, A. Palmieri, S. Subramanian, Y. Zhou, R. Kaul, et al. Scan of Human Genome Reveals No New Loci Under Ancient Balancing Selection Genetics, August 1, 2006; 173(4): 2165 - 2177. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. L. Parr, G. D. Dakubo, K. A. Crandall, J. Maki, B. Reguly, A. Aguirre, R. Wittock, K. Robinson, J. S. Alexander, M. A. Birch-Machin, et al. Somatic Mitochondrial DNA Mutations in Prostate Cancer and Normal Appearing Adjacent Glands in Comparison to Age-Matched Prostate Samples without Malignant Histology J. Mol. Diagn., July 1, 2006; 8(3): 312 - 319. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. S. Johnson, W. S. Laegreid, R. J. Basaraba, and D. C. Baker Truncated gamma-glutamyl carboxylase in rambouillet sheep. Vet. Pathol., July 1, 2006; 43(4): 430 - 437. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
J. M. Akey, W. J. Swanson, J. Madeoy, M. Eberle, and M. D. Shriver TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations Hum. Mol. Genet., July 1, 2006; 15(13): 2106 - 2113. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Bellanne-Chantelot, I. Chaumarel, M. Labopin, F. Bellanger, V. Barbu, C. De Toma, F. Delhommeau, N. Casadevall, W. Vainchenker, G. Thomas, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders Blood, July 1, 2006; 108(1): 346 - 352. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
 |
|
 A. Modesto, L.M. Moreno, K. Krahn, S. King, and A.C. Lidral MSX1 and Orofacial Clefting with and without Tooth Agenesis Journal of Dental Research, June 1, 2006; 85(6): 542 - 546. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
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|
|
|
|
|
|
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|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
T. C. Greiner, C. Dasgupta, V. V. Ho, D. D. Weisenburger, L. M. Smith, J. C. Lynch, J. M. Vose, K. Fu, J. O. Armitage, R. M. Braziel, et al. Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma PNAS, February 14, 2006; 103(7): 2352 - 2357. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Cheng, D. O. Stram, K. L. Penney, M. Pike, L. Le Marchand, L. N. Kolonel, J. Hirschhorn, D. Altshuler, B. E. Henderson, and M. L. Freedman Common Genetic Variation in IGF1 and Prostate Cancer Risk in the Multiethnic Cohort J Natl Cancer Inst, January 18, 2006; 98(2): 123 - 134. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. F. Voight, A. M. Adams, L. A. Frisse, Y. Qian, R. R. Hudson, and A. Di Rienzo Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes PNAS, December 20, 2005; 102(51): 18508 - 18513. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Z. Tan, A. M. Shon, and C. Ober Evidence of balancing selection at the HLA-G promoter region Hum. Mol. Genet., December 1, 2005; 14(23): 3619 - 3628. [Abstract] [Full Text] [PDF]
|
|
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J. Zhou, Y. Lu, X.H. Gao, Y.C. Chen, J.J. Lu, Y.X. Bai, Y. Shen, and B.K. Wang The Growth Hormone Receptor Gene is Associated with Mandibular Height in a Chinese Population Journal of Dental Research, November 1, 2005; 84(11): 1052 - 1056. [Abstract] [Full Text] [PDF]
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P. Hallast, L. Nagirnaja, T. Margus, and M. Laan Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin {beta} gene cluster Genome Res., November 1, 2005; 15(11): 1535 - 1546. [Abstract] [Full Text] [PDF]
|
|
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|
C. S. Carlson, D. J. Thomas, M. A. Eberle, J. E. Swanson, R. J. Livingston, M. J. Rieder, and D. A. Nickerson Genomic regions exhibiting positive selection identified from dense genotype data Genome Res., November 1, 2005; 15(11): 1553 - 1565. [Abstract] [Full Text] [PDF]
|
|
|
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|
|
S. Tacher, P. Quignon, M. Rimbault, S. Dreano, C. Andre, and F. Galibert Olfactory Receptor Sequence Polymorphism Within and Between Breeds of Dogs J. Hered., November 1, 2005; 96(7): 812 - 816. [Abstract] [Full Text] [PDF]
|
|
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|
|
|
R. D. Read, P. J. Goodfellow, E. R. Mardis, N. Novak, J. R. Armstrong, and R. L. Cagan A Drosophila Model of Multiple Endocrine Neoplasia Type 2 Genetics, November 1, 2005; 171(3): 1057 - 1081. [Abstract] [Full Text] [PDF]
|
|
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|
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A. Y. Signorovitch, S. L. Dellaporta, and L. W. Buss Molecular signatures for sex in the Placozoa PNAS, October 25, 2005; 102(43): 15518 - 15522. [Abstract] [Full Text] [PDF]
|
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 S. J. Lindsay, J. K. Bonfield, and M. E. Hurles Shotgun haplotyping: a novel method for surveying allelic sequence variation Nucleic Acids Res., October 12, 2005; 33(18): e152 - e152. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. M. G. Smits, T. A. Peters, J. D. Mul, H. J. Croes, J. A. M. Fransen, A. J. Beynon, V. Guryev, R. H. A. Plasterk, and E. Cuppen Identification of a Rat Model for Usher Syndrome Type 1B by N-Ethyl-N-nitrosourea Mutagenesis-Driven Forward Genetics Genetics, August 1, 2005; 170(4): 1887 - 1896. [Abstract] [Full Text] [PDF]
|
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|
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 |
|
 Y.-F. Liu, W.-M. Chen, Y.-F. Lin, R.-C. Yang, M.-W. Lin, L.-H. Li, Y.-H. Chang, Y.-S. Jou, P.-Y. Lin, J.-S. Su, et al. Type II Collagen Gene Variants and Inherited Osteonecrosis of the Femoral Head N. Engl. J. Med., June 2, 2005; 352(22): 2294 - 2301. [Abstract] [Full Text] [PDF]
|
|
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 |
|
 S. V Edwards, W Bryan Jennings, and A. M Shedlock Phylogenetics of modern birds in the era of genomics Proc R Soc B, May 22, 2005; 272(1567): 979 - 992. [Abstract] [Full Text] [PDF]
|
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|
|
 |
|
 R. Weikard, C. Kuhn, T. Goldammer, G. Freyer, and M. Schwerin The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis Physiol Genomics, March 21, 2005; 21(1): 1 - 13. [Abstract] [Full Text] [PDF]
|
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|
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S. Weckx, J. Del-Favero, R. Rademakers, L. Claes, M. Cruts, P. De Jonghe, C. Van Broeckhoven, and P. De Rijk novoSNP, a novel computational tool for sequence variation discovery Genome Res., March 1, 2005; 15(3): 436 - 442. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. L. Morrell, D. M. Toleno, K. E. Lundy, and M. T. Clegg Low levels of linkage disequilibrium in wild barley (Hordeum vulgare ssp. spontaneum) despite high rates of self-fertilization PNAS, February 15, 2005; 102(7): 2442 - 2447. [Abstract] [Full Text] [PDF]
|
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S. S. Lakhman, D. Ghosh, and J. G. Blanco FUNCTIONAL SIGNIFICANCE OF A NATURAL ALLELIC VARIANT OF HUMAN CARBONYL REDUCTASE 3 (CBR3) Drug Metab. Dispos., February 1, 2005; 33(2): 254 - 257. [Abstract] [Full Text] [PDF]
|
|
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 |
|
 I. L. Sedlmeyer, C. L. Pearce, J. A. Trueman, J. L. Butler, T. Bersaglieri, A. P. Read, P. E. Clayton, L. N. Kolonel, B. E. Henderson, J. N. Hirschhorn, et al. Determination of Sequence Variation and Haplotype Structure for the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes: Investigation of Role in Pubertal Timing J. Clin. Endocrinol. Metab., February 1, 2005; 90(2): 1091 - 1099. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. D. Hurley, L. J. Engle, J. T. Davis, A. M. Welsh, and J. E. Landers A simple, bead-based approach for multi-SNP molecular haplotyping Nucleic Acids Res., January 6, 2005; 32(22): e186 - e186. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Green, G. Elvidge, N. Jacobsen, B. Glaser, I. Jones, M. C. O'Donovan, G. Kirov, M. J. Owen, and N. Craddock Localization of Bipolar Susceptibility Locus by Molecular Genetic Analysis of the Chromosome 12q23-q24 Region in Two Pedigrees With Bipolar Disorder and Darier's Disease Am J Psychiatry, January 1, 2005; 162(1): 35 - 42. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. R. Bhangale, M. J. Rieder, R. J. Livingston, and D. A. Nickerson Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes Hum. Mol. Genet., January 1, 2005; 14(1): 59 - 69. [Abstract] [Full Text] [PDF]
|
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H. G. Olsen, S. Lien, M. Gautier, H. Nilsen, A. Roseth, P. R. Berg, K. K. Sundsaasen, M. Svendsen, and T. H. E. Meuwissen Mapping of a Milk Production Quantitative Trait Locus to a 420-kb Region on Bovine Chromosome 6 Genetics, January 1, 2005; 169(1): 275 - 283. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Kondo, M. Qin, A. Mizota, M. Kondo, H. Hayashi, K. Hayashi, K. Oshima, T. Tahira, and K. Hayashi A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers Invest. Ophthalmol. Vis. Sci., December 1, 2004; 45(12): 4433 - 4439. [Abstract] [Full Text] [PDF]
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N. B. Sutter, M. A. Eberle, H. G. Parker, B. J. Pullar, E. F. Kirkness, L. Kruglyak, and E. A. Ostrander Extensive and breed-specific linkage disequilibrium in Canis familiaris Genome Res., December 1, 2004; 14(12): 2388 - 2396. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Zhang, F. Rao, J. Wessel, B. P. Kennedy, B. K. Rana, L. Taupenot, E. O. Lillie, M. Cockburn, N. J. Schork, M. G. Ziegler, et al. Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins Physiol Genomics, November 17, 2004; 19(3): 277 - 291. [Abstract] [Full Text] [PDF]
|
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D. Concepcion, K. L. Seburn, G. Wen, W. N. Frankel, and B. A. Hamilton Mutation Rate and Predicted Phenotypic Target Sizes in Ethylnitrosourea-Treated Mice Genetics, October 1, 2004; 168(2): 953 - 959. [Abstract] [Full Text] [PDF]
|
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R. J. Livingston, A. von Niederhausern, A. G. Jegga, D. C. Crawford, C. S. Carlson, M. J. Rieder, S. Gowrisankar, B. J. Aronow, R. B. Weiss, and D. A. Nickerson Pattern of Sequence Variation Across 213 Environmental Response Genes Genome Res., October 1, 2004; 14(10a): 1821 - 1831. [Abstract] [Full Text] [PDF]
|
|
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M. S. Anglesio, V. Evdokimova, N. Melnyk, L. Zhang, C. V. Fernandez, P. E. Grundy, S. Leach, M. A. Marra, A. R. Brooks-Wilson, J. Penninger, et al. Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney Hum. Mol. Genet., September 15, 2004; 13(18): 2061 - 2074. [Abstract] [Full Text] [PDF]
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A.R. Vieira, R. Meira, A. Modesto, and J.C. Murray MSX1, PAX9, and TGFA Contribute to Tooth Agenesis in Humans Journal of Dental Research, September 1, 2004; 83(9): 723 - 727. [Abstract] [Full Text] [PDF]
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