| Description |
This is the Whitehead Institute/MIT Center for Genome Research, Human SNP
Mapping Project, Data Release 1 (May 1998).
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. (The Science paper abstract)
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