Genotyping errors: causes, consequences and solutions

Nat Rev Genet. 2005 Nov;6(11):847-59. doi: 10.1038/nrg1707.


Although genotyping errors affect most data and can markedly influence the biological conclusions of a study, they are too often neglected. Errors have various causes, but their occurrence and effect can be limited by considering these causes in the production and analysis of the data. Procedures that have been developed for dealing with errors in linkage studies, forensic analyses and non-invasive genotyping should be applied more broadly to any genetic study. We propose a protocol for estimating error rates and recommend that these measures be systemically reported to attest the reliability of published genotyping studies.

Publication types

  • Review

MeSH terms

  • Animals
  • Genotype
  • Models, Genetic*
  • Molecular Biology* / methods
  • Molecular Biology* / standards
  • Plants
  • Research Design* / standards