Efficient approach to unique single-nucleotide polymorphism discovery

Genome Research

Volumn 9, Issue 5, 1999, Pages 499-505

  Taillon Miller, Patricia ^a   Piernot, Ellen E ^a   Kwok, Pui Yan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; COST; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; GENE DUPLICATION; GENE FREQUENCY; HUMAN; HYDATIDIFORM MOLE; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REFERENCE VALUE; TECHNIQUE;

ALLELES; BASE SEQUENCE; FEMALE; HUMANS; HYDATIDIFORM MOLE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; PREGNANCY; SEQUENCE ANALYSIS, DNA;

EID: 0033042156     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Barnes, W.M. 1994. PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates. Proc. Natl. Acad. Sci. 91: 2216-2220.
2. Collins, F.S., M.S. Guyer, and A. Chakravarti. 1997. Variations on a theme: Cataloging human DNA sequence variation. Science 278: 1580-1581.
3. Dausset, J., H. Cann, D. Cohen, M. Lathrop, J.M. Lalouel, and R. White. 1990. Centre d'etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome. Genomics 6: 575-577.
4. Eichler, E.E., F. Lu, Y. Shen, R. Antonacci, V. Jurecic, N.A. Doggett, R.K. Moyzis, A. Baldini, R.A. Gibbs, and D.L. Nelson. 1996. Duplication of a gene-rich cluster between 16p11.1 and Xq28: A novel pericentromeric-directed mechanism for paralogous genome evolution. Hum. Mol. Genet. 5: 899-912.
5. Eichler, E.E., M.L. Budarf, M. Rocchi, L.L. Deaven, N.A. Doggett, A. Baldini, D.L. Nelson, and H.W. Mohrenweiser. 1997. Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity. Hum. Mol. Genet. 6: 991-1002.
6. Grimes, D.A. 1984. Epidemiology of gestational trophoblastic disease. Am. J. Obset. Gynecol. 150: 309-318.
7. Kwok, P.-Y., C. Carlson, T. Yager, W. Ankener, and D.A. Nickerson. 1994. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics 23: 138-144.
8. Kwok, P.-Y., Q. Deng, H. Zakeri, and D.A. Nickerson. 1996. Increasing the information content of STS-based genome maps: Identifying polymorphisms in mapped STSs. Genomics 31: 123-126.
9. Lawler, S.D., R.A. Fisher, and J. Dent. 1991. A prospective genetic study of complete and partial hydatidiform moles. Am. J. Obstet. Gynecol. 164: 1270-1277.
10. Marshall, E. 1997. "Playing Chicken" over gene markers. Science 278: 2046-2048.
11. _. 1998. A second private genome project. Science 281: 1121.
12. Risch, N. and K. Merikangas. 1996. The future of genetic studies of complex human diseases. Science 273: 1516-1517.
13. Saiki, R.K., D.H. Gelfand, S. Stoffel, S.J. Scharf, R. Higuchi, G.T. Horn, K.B. Mullis, and H.A. Erlich. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487-491.
14. Taillon-Miller, P., I. Bauer-Sardiña, H. Zakeri, L. Hillier, D.G. Mutch, and P.-Y. Kwok. 1997. The homozygous complete hydatidiform mole: A unique resource for genome studies. Genomics 46: 307-310.
15. Taillon-Miller, P., Z. Gu, Q. Li, L. Hillier, and P.-Y. Kwok 1998. Overlapping genomic sequences: A treasure trove of single nucleotide polymorphisms. Genome Res. 8: 748-754.
16. Wang, D.G., J.B. Fan, C.J. Siao, A. Berno, P. Young, R. Sapolsky, G. Ghandour, N. Perkins, E. Winchester, J. Spencer et al. 1998. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280: 1077-1082.
17. Zakeri, H., G. Amparo, S.-M. Chen, S. Spurgeon, and P.-Y. Kwok. 1998. Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing. BioTechniques 35: 406-414.