Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1996 Oct;59(4):946–950.

Identifying marker typing incompatibilities in linkage analysis.

H M Stringham 1, M Boehnke 1
PMCID: PMC1914788  PMID: 8808612

Abstract

A common problem encountered in linkage analyses is that execution of the computer program is halted because of genotypes in the data that are inconsistent with Mendelian inheritance. Such inconsistencies may arise because of pedigree errors or errors in typing. In some cases, the source of the inconsistencies is easily identified by examining the pedigree. In others, the error is not obvious, and substantial time and effort are required to identify the responsible genotypes. We have developed two methods for automatically identifying those individuals whose genotypes are most likely the cause of the inconsistencies. First, we calculate the posterior probability of genotyping error for each member of the pedigree, given the marker data on all pedigree members and allowing anyone in the pedigree to have an error. Second, we identify those individuals whose genotypes could be solely responsible for the inconsistency in the pedigree. We illustrate these methods with two examples: one a pedigree error, the second a genotyping error. These methods have been implemented as a module of the pedigree analysis program package MENDEL.

Full text

PDF
947

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Cottingham R. W., Jr, Idury R. M., Schäffer A. A. Faster sequential genetic linkage computations. Am J Hum Genet. 1993 Jul;53(1):252–263. [PMC free article] [PubMed] [Google Scholar]
  2. Lange K., Weeks D., Boehnke M. Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol. 1988;5(6):471–472. doi: 10.1002/gepi.1370050611. [DOI] [PubMed] [Google Scholar]
  3. Lathrop G. M., Hooper A. B., Huntsman J. W., Ward R. H. Evaluating pedigree data. I. The estimation of pedigree error in the presence of marker mistyping. Am J Hum Genet. 1983 Mar;35(2):241–262. [PMC free article] [PubMed] [Google Scholar]
  4. Lathrop G. M., Huntsman J. W., Hooper A. B., Ward R. H. Evaluating pedigree data. II. Identifying the cause of error in families with inconsistencies. Hum Hered. 1983;33(6):377–389. doi: 10.1159/000153406. [DOI] [PubMed] [Google Scholar]
  5. Lincoln S. E., Lander E. S. Systematic detection of errors in genetic linkage data. Genomics. 1992 Nov;14(3):604–610. doi: 10.1016/s0888-7543(05)80158-2. [DOI] [PubMed] [Google Scholar]
  6. Ott J. Detecting marker inconsistencies in human gene mapping. Hum Hered. 1993 Jan-Feb;43(1):25–30. doi: 10.1159/000154109. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES