title: Large-scale genotyping by mass spectrometry: experience, advances and obstacles.
abstract: Single nucleotide polymorphism (SNP) genotyping has become a key technology for genetic studies. In recent years, matrix-assisted laser desorption/ionization (MALDI) time-of-flight mass spectrometry has emerged as a very powerful method for SNP genotyping. Here, we discuss our experience in implementing a high-throughput SNP genotyping facility based on MALDI, and the issues encountered in adapting this to large-scale genetic studies. Most of these issues are not specific to using MALDI approaches, and they will also serve as valuable pointers for establishing high-throughput genotyping with other methods.
authors.affiliation: Centre National de Génotypage, Bâtiment G2, 2 rue Gaston Crémieux, 91057 Evry Cedex, France.
authors.forename: Doris
authors.initials: D
authors.lastname: Lechner
authors.forename: G Mark
authors.initials: GM
authors.lastname: Lathrop
authors.forename: Ivo G
authors.initials: IG
authors.lastname: Gut
mesh_terms: D005820:Genetic Testing / Q000191:economics / Q000379:methods / Q000592:standards; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000191:economics / Q000379:methods* / Q000592:standards; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000295:instrumentation / Q000379:methods / Q000592:standards