Automated identification of single nucleotide polymorphisms from sequencing data

Proceedings - IEEE Computer Society Bioinformatics Conference, CSB 2002

Volumn , Issue , 2002, Pages 87-93

  Takahashi, M ^a   Matsuda, F ^a   Margetic, N ^a   Lathrop, M ^a  

^a CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOINFORMATICS; GENES; NUCLEOTIDES;

AUTOMATED IDENTIFICATION; GENETIC VARIATION; HIGH FREQUENCY HF; HIGH-QUALITY SEQUENCES; LARGE SCALE DISCOVERY; LOW QUALITIES; SECONDARY PEAK; SINGLE NUCLEOTIDE POLYMORPHISMS;

POLYMERASE CHAIN REACTION;

ALGORITHM; ARTICLE; AUTOMATED PATTERN RECOGNITION; CHROMOSOME MAP; COMPUTER PROGRAM; DNA SEQUENCE; EVALUATION; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; PATTERN RECOGNITION, AUTOMATED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, NUCLEIC ACID; SOFTWARE;

EID: 18244404310     PISSN: None     EISSN: None     Source Type: Conference Proceeding    
DOI: 10.1109/CSB.2002.1039332     Document Type: Conference Paper

References (11)

1. N. Risch and K. Merikangas, The future of genetic studies of complex human diseases , Science, 1996, 273: pp. 1516-1517.
2. E.S. Lander, The new genomics: global views of biology , Science, 1996, 274: pp. 536-539.
3. D. Altshuler, V.J. Pollara, C.R. Cowles, W.J. Van Etten, J. Baldwin, L. Linton, and E.S. Lander, An SNP map of the human genome generated by reduced representation shotgun sequencing , Nature, 2000, 407: pp. 513-516.
4. F. Sanger, S. Nicklen and A.R. Coulson, DNA sequencing with chain-terminating inhibitors , Proc. Natl. Acad. Sci. USA, 1977, 74: pp. 5463-5467.
5. B. Ewing, L. Hillier, M.C. Wendl, and P. Green, Basecalling of automated sequencer traces using phred. I. Accuracy assessment , Genome Res., 1998, 8: pp. 175-185.
6. B. Ewing and P. Green, Base-calling of automated sequencer traces using phred. II. Error probabilities , Genome Res., 1998, 8: pp. 186-194.
7. L.G. Lee, C.R. Connell, S.L. Cheng, B.F. MacArdle, C.W. Fuller, N.D. Halloran, and R.K. Wilson, DNA sequencing with dye-labeled terminators and T7 DNA polymerase: Effect of dyes and dNTPs on incorporation of dye-terminators and probability analysis of termination fragments , Nucleic Acids Res, 1992, 20: pp. 2471-2483.
8. L.T. Parker, H. Zakeri, Q. Deng, S. Spurgeon, P.-Y. Kwok, and D.A. Nickerson, AmpliTaq DNA polymerase, FS dye-terminator sequencing: Analysis of peak height patterns , BioTechnique, 1996, 21: pp. 694-699.
9. N. Blin and D.W. Stafford, A general method for isolation of high molecular weight DNA from eukaryotes , Nucleic Acids Res., 1976, 3: pp. 2303-2308.
10. T.F. Smith and M.S. Waterman, Identification of common molecular subsequences , J. Mol. Biol., 1981, 147: pp. 195-197.
11. M.G. Kendall, A. Stuart and J.K. Ord, Kendall s advanced theory of statistics (5th ed.), Oxford University Press, New York, 1991.