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Am J Hum Genet. 1996 January; 58(1): 225–234. | PMCID: PMC1914945 |
Error detection for genetic data, using likelihood methods. M. G. Ehm, M. Kimmel, and R. W. Cottingham, Jr Department of Statistics, Rice University, Houston, USA. Abstract 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. Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.6M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References. Images in this article Click on the image to see a larger version. These references are in PubMed. This may not be the complete list of references from this article. - Brzustowicz LM, Mérette C, Xie X, Townsend L, Gilliam TC, Ott J. Molecular and statistical approaches to the detection and correction of errors in genotype databases. Am J Hum Genet. 1993 Nov;53(5):1137–1145. [PubMed]
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