title: Sequence variation in genes and genomic DNA: methods for large-scale analysis.
abstract: The large-scale typing of sequence variation in genes and genomic DNA presents new challenges for which it is not clear that current technologies are sufficiently sensitive, robust, or scalable. This review surveys the current platform technologies: separation-based approaches, which include mass spectrometry; homogeneous assays; and solid-phase/array-based assays. We assess techniques for discovering and typing variation on a large scale, especially that of single-nucleotide polymorphisms. The in-depth focus is the DNA chip/array platform, and some of the published large-scale studies are closely examined. The problem of large-scale amplification is addressed, and emerging technologies for present and future needs are indicated.
authors.affiliation: Department of Biochemistry, University of Oxford, Oxford OX1 3QU, United Kingdom. Kalim@bioch.ox.ac.uk
authors.forename: K U
authors.initials: KU
authors.lastname: Mir
authors.forename: E M
authors.initials: EM
authors.lastname: Southern
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D013058:Mass Spectrometry; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D005914:Globins; D004247:DNA