A general approach to single-nucleotide polymorphism discovery

Nature Genetics

Volumn 23, Issue 4, 1999, Pages 452-456

  Marth, Gabor T ^a   Korf, Ian ^a   Yandell, Mark D ^a   Yeh, Raymond T ^a   Gu, Zhijie ^a   Zakeri, Hamideh ^a   Stitziel, Nathan O ^a   Hillier, LaDeana ^a   Kwok, Pui Yan ^a   Gish, Warren R ^a  

^a WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ARTICLE; BAYES THEOREM; EXPRESSED SEQUENCE TAG; GENETIC ORGANIZATION; GENETIC POLYMORPHISM; HUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALGORITHMS; ALLELES; BAYES THEOREM; DATA INTERPRETATION, STATISTICAL; EXPRESSED SEQUENCE TAGS; GENETIC TECHNIQUES; GENOME, HUMAN; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SOFTWARE; VARIATION (GENETICS);

EID: 0032706623     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/70570     Document Type: Article

References (24)

1. Collins, F.S., Guyer, M.S. & Chakravarti, A. Variations on a theme: cataloging human DNA sequence variation. Science 278, 1580-1581 (1997).
2. Wang, D.G. et al. Large-scale identification, mapping, and genotyping of single nucleotide polymorphisms in the human genome. Science 280, 1077-1082 (1998).
3. Taillon-Miller, P., Gu, Z., Hillier, L. & Kwok, P.-Y. Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. Genome Res. 8, 748-754 (1998).
4. Picoult-Newberg, L. et al. Mining SNPs from EST databases. Genome Res. 9, 167-174 (1999).
5. Buetow, K.H., Edmondson, M.N. & Cassidy, A.B. Reliable identification of large numbers of candidate SNPs from public EST data. Nature Genet. 21, 323-325 (1999).
6. The Sanger Centre & The Washington University Genome Sequencing Center. Toward a complete human genome sequence. Genome Res. 8, 1097-1108 (1998).
7. Venter, J.C. et al. Shotgun sequencing of the human genome. Science 280, 1540-1542 (1998).
8. Hillier, L. et al. Generation and analysis of 280,000 human expressed sequence tags. Genome Res. 6, 807-828 (1996).
9. Adams, M.D., Soares, M.B., Kerlavage, A.R., Fields, C. & Venter, J.C. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. Nature Genet. 4, 373-380 (1993).
10. Hudson, T.J. et al. An STS-based map of the human genome. Science 270, 1945-1954 (1995).
11. Marra, M., Weinstock, L.A. & Mardis, E.R. End sequence determination from large insert clones using energy transfer fluorescent primers. Genome Res. 6, 1118-1122 (1996).
12. Durbin, R. & Dear, S. Base qualities help sequencing software. Genome Res. 8, 161-162 (1998).
13. Ewing, B., Hillier, L., Wendl, M.C. & Green, P. Base-calling of automated traces using Phred. I. Accuracy assessment. Genome Res. 8, 175-185 (1998).
14. Ewing, B. & Green, P. Base-calling of automated traces using Phred. II. Error probabilities. Genome Res. 8, 186-194 (1998).
15. Bayes, T. An essay towards solving a problem in the doctrine of chances. Philos. Trans. R. Soc. 53, 370-418 (1763). Reprinted in Biometrika 45, 293-315 (1958).
16. Bayes, T. An essay towards solving a problem in the doctrine of chances. Philos. Trans. R. Soc. 53, 370-418 (1763). Reprinted in Biometrika 45, 293-315 (1958).
17. Aaronson, J. et al. Toward the development of a gene index to the human genome: an assessment of the nature of high-throughput EST sequence data. Genome Res. 6, 829-845 (1996).
18. Kwok, P.-Y., Carlson, C., Yager, T., Ankener, W. & Nickerson, D.A. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics 23, 138-144 (1994).
19. Taillon-Miller, P. et al. The homozygous complete hydatidiform mole: a unique resource for genome studies. Genomics 46, 307-310 (1997).
20. Collins, F.S. et al. New goals for the U.S. Human Genome Project: 1998-2003. Science 282, 682-689 (1998).
21. Nickerson, D.A. et al. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet. 19, 233-240 (1998).
22. Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 22, 231-238 (1999).
23. Halushka, M.K. et al. Patterns of single-nucleotide polymorphisms in candidate genes regulating blood-pressure homeostasis. Nature Genet. 22, 239-247 (1999).
24. Gordon, D., Abaijan, C. & Green, P. Consed: a graphical tool for sequence finishing. Genome Res. 8, 195-202 (1998).