Large-scale genotyping by mass spectrometry: experience, advances and obstacles

Curr Opin Chem Biol. 2002 Feb;6(1):31-8. doi: 10.1016/s1367-5931(01)00290-3.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Testing / economics
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Genotype*
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Analysis, DNA / economics
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / standards
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization* / instrumentation
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization* / methods
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization* / standards