Error detection for genetic data, using likelihood methods

Am J Hum Genet. 1996 Jan;58(1):225-34.


As genetic maps become denser, the effect of laboratory typing errors becomes more serious. We review a general method for detecting errors in pedigree genotyping data that is a variant of the likelihood-ratio test statistic. It pinpoints individuals and loci with relatively unlikely genotypes. Power and significance studies using Monte Carlo methods are shown by using simulated data with pedigree structures similar to the CEPH pedigrees and a larger experimental pedigree used in the study of idiopathic dilated cardiomyopathy (DCM). The studies show the index detects errors for small values of theta with high power and an acceptable false positive rate. The method was also used to check for errors in DCM laboratory pedigree data and to estimate the error rate in CEPH-chromosome 6 data. The errors flagged by our method in the DCM pedigree were confirmed by the laboratory. The results are consistent with estimated false-positive and false-negative rates obtained using simulation.

Publication types

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

MeSH terms

  • Cardiomyopathy, Dilated / epidemiology
  • Cardiomyopathy, Dilated / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17
  • Computer Simulation
  • False Positive Reactions
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Mathematics
  • Models, Genetic*
  • Models, Statistical*
  • Pedigree
  • Probability*
  • Reproducibility of Results