Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome

David G. Wang; Jian Bing Fan; Chia Jen Siao; Anthony Berno; Peter Young; Ron Sapolsky; Ghassan Ghandour; Nancy Perkins; Ellen Winchester; Jessica Spencer; Leonid Kruglyak; Lincoln Stein; Linda Hsie; Thodoros Topaloglou; Earl Hubbell; Elizabeth Robinson; Michael Mittmann; Macdonald S. Morris; Naiping Shen; Dan Kilburn; John Rioux; Chad Nusbaum; Steve Rozen; Thomas J. Hudson; Robert Lipshutz; Mark Chee; Eric S. Lander

doi:10.1126/science.280.5366.1077

Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome

David G. Wang^*, Jian Bing Fan, Chia Jen Siao, Anthony Berno, Peter Young, Ron Sapolsky, Ghassan Ghandour, Nancy Perkins, Ellen Winchester, Jessica Spencer, Leonid Kruglyak, Lincoln Stein, Linda Hsie, Thodoros Topaloglou, Earl Hubbell, Elizabeth Robinson, Michael Mittmann, Macdonald S. Morris, Naiping Shen, Dan KilburnJohn Rioux, Chad Nusbaum, Steve Rozen, Thomas J. Hudson, Robert Lipshutz, Mark Chee, Eric S. Lander

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

1801 Scopus citations

Abstract

Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.

Original language	English
Pages (from-to)	1077-1082
Number of pages	6
Journal	Science
Volume	280
Issue number	5366
DOIs	https://doi.org/10.1126/science.280.5366.1077
State	Published - 15 05 1998
Externally published	Yes

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Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P., Sapolsky, R., Ghandour, G., Perkins, N., Winchester, E., Spencer, J., Kruglyak, L., Stein, L., Hsie, L., Topaloglou, T., Hubbell, E., Robinson, E., Mittmann, M., Morris, M. S., Shen, N., ... Lander, E. S. (1998). Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome. Science, 280(5366), 1077-1082. https://doi.org/10.1126/science.280.5366.1077

@article{42f4fc094ccd44ddac7c823f96d667f1,

title = "Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome",

abstract = "Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.",

author = "Wang, \{David G.\} and Fan, \{Jian Bing\} and Siao, \{Chia Jen\} and Anthony Berno and Peter Young and Ron Sapolsky and Ghassan Ghandour and Nancy Perkins and Ellen Winchester and Jessica Spencer and Leonid Kruglyak and Lincoln Stein and Linda Hsie and Thodoros Topaloglou and Earl Hubbell and Elizabeth Robinson and Michael Mittmann and Morris, \{Macdonald S.\} and Naiping Shen and Dan Kilburn and John Rioux and Chad Nusbaum and Steve Rozen and Hudson, \{Thomas J.\} and Robert Lipshutz and Mark Chee and Lander, \{Eric S.\}",

year = "1998",

month = may,

day = "15",

doi = "10.1126/science.280.5366.1077",

language = "英语",

volume = "280",

pages = "1077--1082",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5366",

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Wang, DG, Fan, JB, Siao, CJ, Berno, A, Young, P, Sapolsky, R, Ghandour, G, Perkins, N, Winchester, E, Spencer, J, Kruglyak, L, Stein, L, Hsie, L, Topaloglou, T, Hubbell, E, Robinson, E, Mittmann, M, Morris, MS, Shen, N, Kilburn, D, Rioux, J, Nusbaum, C, Rozen, S, Hudson, TJ, Lipshutz, R, Chee, M & Lander, ES 1998, 'Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome', Science, vol. 280, no. 5366, pp. 1077-1082. https://doi.org/10.1126/science.280.5366.1077

TY - JOUR

T1 - Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome

AU - Wang, David G.

AU - Fan, Jian Bing

AU - Siao, Chia Jen

AU - Berno, Anthony

AU - Young, Peter

AU - Sapolsky, Ron

AU - Ghandour, Ghassan

AU - Perkins, Nancy

AU - Winchester, Ellen

AU - Spencer, Jessica

AU - Kruglyak, Leonid

AU - Stein, Lincoln

AU - Hsie, Linda

AU - Topaloglou, Thodoros

AU - Hubbell, Earl

AU - Robinson, Elizabeth

AU - Mittmann, Michael

AU - Morris, Macdonald S.

AU - Shen, Naiping

AU - Kilburn, Dan

AU - Rioux, John

AU - Nusbaum, Chad

AU - Rozen, Steve

AU - Hudson, Thomas J.

AU - Lipshutz, Robert

AU - Chee, Mark

AU - Lander, Eric S.

PY - 1998/5/15

Y1 - 1998/5/15

N2 - Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.

AB - Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.

UR - https://www.scopus.com/pages/publications/0032524383

U2 - 10.1126/science.280.5366.1077

DO - 10.1126/science.280.5366.1077

M3 - 文章

C2 - 9582121

AN - SCOPUS:0032524383

SN - 0036-8075

VL - 280

SP - 1077

EP - 1082

JO - Science

JF - Science

IS - 5366

ER -

Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome

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