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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Algorithms
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Alleles
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Chromosome Mapping / methods*
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DNA, Complementary
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Databases, Factual
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Deoxyribonucleotides / genetics*
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Dinucleoside Phosphates
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Gene Expression
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Genetic Markers
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Genetic Techniques*
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Genetic Variation
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Genome, Human*
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Genotype*
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Heterozygote
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Homozygote
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Humans
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Molecular Sequence Data
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Nucleic Acid Hybridization
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Polymerase Chain Reaction
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Polymorphism, Genetic*
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Reproducibility of Results
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Sequence Analysis, DNA
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Sequence Tagged Sites
Substances
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DNA, Complementary
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Deoxyribonucleotides
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Dinucleoside Phosphates
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Genetic Markers
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cytidylyl-3'-5'-guanosine
Associated data
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GENBANK/G42906
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GENBANK/G42907
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GENBANK/G42908
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GENBANK/G42909
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GENBANK/G42910
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GENBANK/G42911
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GENBANK/G42912
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GENBANK/G42913
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GENBANK/G42914
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GENBANK/G42915
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GENBANK/G42916
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GENBANK/G42917
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GENBANK/G42918
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GENBANK/G42919
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GENBANK/G42920
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GENBANK/G42921
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GENBANK/G42922
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GENBANK/G42923
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GENBANK/G42924
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GENBANK/G42925
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GENBANK/G42926
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GENBANK/G42927
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GENBANK/G42928
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GENBANK/G42929
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GENBANK/G42930
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GENBANK/G42931
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GENBANK/G42932
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GENBANK/G42933
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GENBANK/G42934
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GENBANK/G42935