Article
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
Science (New York, N.Y.) - 15 May 1998
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, Kilburn D, Rioux J, Nusbaum C, Rozen S, Hudson T J, Lipshutz R, Chee M, Lander E S
Abstract excerpt
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...
Topics
- Algorithms
- Alleles
- Chromosome Mapping
- DNA, Complementary
- Databases, Factual
- Deoxyribonucleotides
- Dinucleoside Phosphates
- Gene Expression
- Genetic Markers
- Genetic Techniques