← Back to Search
Large-scale Identification, Mapping, And Genotyping Of Single-nucleotide Polymorphisms In The Human Genome.
D. Wang, J. B. Fan, C. Siao, A. Berno, P. Young, R. Sapolsky, G. Ghandour, N. Perkins, E. Winchester, J. Spencer, L. Kruglyak, L. Stein, L. Hsie, T. Topaloglou, E. Hubbell, E. Robinson, M. Mittmann, M. Morris, N. Shen, D. Kilburn, J. Rioux, C. Nusbaum, S. Rozen, T. Hudson, R. Lipshutz, M. Chee, E. Lander
Published 1998 · Biology, Medicine
Download PDFAnalyze on Scholarcy
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.
This paper references
Proc. Natl. Acad. Sci
W.-H Li (1984)
Evolution of the primate lineage leading to modern humans: phylogenetic and demographic inferences from DNA sequences.
N. Takahata (1997)
Nucleic Acids Res
M M Deangelis (1995)
Proc. Natl. Acad. Sci
B J Conner (1983)
Light-generated oligonucleotide arrays for rapid DNA sequence analysis.
A. C. Pease (1994)
The genomic sequence screened (279 kb) is the sum of the distances between the primer sites of the STSs successfully resequenced
Ras Guanyl Nucleotide– Releasing Protein with Calcium-and Diacylglycerol-Binding Motifs Julius
Rasgrp L Stacey
DNA sequencing by delayed extraction-matrix-assisted laser desorption/ionization time of flight mass spectrometry.
M. Roskey (1996)
Molecular Evolution (Sinauer
W.-H. Li (1997)
L Kruglyak (1997)
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two–colour fluorescence analysis
J. Hacia (1996)
A method for constructing radiation hybrid maps of whole genomes
M. A. Walter (1994)
The Myth of Eve: Molecular Biology and Human Origins: F. J. Ayala
F. Ayala (1995)
The use of a genetic map of biallelic markers in linkage studies
L. Kruglyak (1997)
Cystic fibrosis mutation detection by hybridization to light‐generated DNA probe arrays
M. Cronin (1996)
An STS-Based Map of the Human Genome
T. Hudson (1995)
G D Schuler (1996)
STSs with the largest sizes were used in the gelbased screen, and the remaining STSs, having somewhat smaller sizes, were used in the subsequent chip-based screen
Extensive polymorphisms observed in HIV–1 clade B protease gene using high–density oligonucleotide arrays
M. Kozal (1996)
M T Cronin (1996)
R C Lewontin (1972)
T. RoskeyM (1996)
M S Collins (1997)
W L G Koontz (1972)
Solid-phase reversible immobilization for the isolation of PCR products.
M. DeAngelis (1995)
This paper is referenced by
Strategies in complex disease mapping.
G. C. Johnson (2000)
USES OF EVOLUTIONARY THEORY IN THE HUMAN GENOME PROJECT
A. Templeton (1999)
Large‐scale genotyping of single nucleotide polymorphisms by Pyrosequencing™ and validation against the 5′nuclease (Taqman®) assay
L. Nordfors (2002)
On the assessment of statistical significance in disease-gene discovery.
L. Zhao (1999)
Design considerations for array CGH to oligonucleotide arrays
R. Baldocchi (2005)
The analysis of genetic susceptibility
T. Vyse (2000)
Combined AFLP and RFLP mapping in two hexaploid oat recombinant inbred populations.
H. Jin (2000)
Genomic mapping and mapping databases.
P. White (2001)
Detection of a primer-binding site polymorphism for the STR locus D16S539 using the Powerplex 1.1 system and validation of a degenerate primer to correct for the polymorphism.
M. S. Nelson (2002)
Distinguishing human ethnic groups by means of sequences from Helicobacter pylori: lessons from Ladakh.
T. Wirth (2004)
Microarray applications in cancer research.
Il-Jin Kim (2004)
Microarray-based approach for high-throughput genotyping of single-nucleotide polymorphisms with layer-by-layer dual-color fluorescence hybridization.
P. Hou (2004)
Somatic alterations in the human cancer genome.
B. Weir (2004)
Medical Biomethods Handbook
J. Walker (2005)
[Genome-wide analysis of single nucleotide polymorphisms].
A. Ogimoto (2005)
Practical strategy for identification of single nucleotide polymorphisms in fruiting mei (Prunus mume Sieb. et zucc.) from amplified fragment length polymorphism fragments
J. Fang (2007)
Genetic and immunological control of human myasthenia gravis
X. Zhao (2005)
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.
A. Pavlícek (2005)
Methods for detecting single nucleotide polymorphisms: Allele-specific PCR and hybridization with oligonucleotide probe
I. Kofiadi (2006)
Estimate of nucleotide diversity in dogs with a pool-and-sequence method
J. A. Brouillette (2000)
Ratiometric fluorescence detection of pyrimidine/purine transversion by using a 2-amino-1,8-naphthyridine derivative.
Hiroyuki Satake (2006)
Molecular karyotyping of human hepatocellular carcinoma using single-nucleotide polymorphism arrays
Y. Midorikawa (2006)
2.12 – How and Why to Apply the Latest Technology*
A. W. Czarnik (2007)
Computational Identification of Recessive Mutations in Cancers using High Throughput SNP-arrays
M. Laakso (2007)
A 1,000-loci transcript map of the barley genome: new anchoring points for integrative grass genomics
N. Stein (2006)
A sensitive fluorescence anisotropy method for point mutation detection by using core-shell fluorescent nanoparticles and high-fidelity DNA ligase.
T. Deng (2007)
COMPARATIVE ANALYSIS OF DISEASE-ASSOCIATED MUTATIONS IN THE CODING REGIONS OF ALTERNATIVELY AND CONSTITUTIVELY SPLICED HUMAN GENES
Q. Huang (2008)
A High-Density SNP Map for Neurospora crassa
R. Lambreghts (2008)
Basic molecular techniques for the detection of single nucleotide polymorphisms: genome-wide applications in search for endocrine tumor related genes.
A. Horvath (2009)
Strategies for SNP genotyping by mass spectrometry
S. Hahner (2003)
Microarreglos de DNA
J. Ramírez (2003)
Towards optimally multiplexed applications of universal DNA tag systems
A. Ben-Dor (2003)See more