Hardy–Weinberg quality control

An efficient test of deviation from Hardy–Weinberg frequencies with one degree of freedom was applied to 44 marker loci in a genome scan, and 7 loci had a significant excess of apparent homozygotes (χ2(1) > 6) suggestive of typing error. In this example evidence for linkage did not increase when outliers were censored. Statistical quality control is an essential part of genotyping, and the effect of mistyping and map error should be considered in evaluating any genome scan.

[1]  Derek Gordon,et al.  True Pedigree Errors More Frequent Than Apparent Errors for Single Nucleotide Polymorphisms , 1999, Human Heredity.

[2]  N. Morton,et al.  Linkage of asthma to markers on chromosome 12 in a sample of 240 families using quantitative phenotype scores. , 1998, Genomics.

[3]  Amanda J. Wilson,et al.  A search for type 1 diabetes susceptibility genes in families from the United Kingdom , 1998, Nature Genetics.

[4]  N. Risch,et al.  A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus , 1998, Nature Genetics.

[5]  R M Idury,et al.  A simple method for automated allele binning in microsatellite markers. , 1997, Genome research.

[6]  Joseph B. Rayman,et al.  Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group. , 1997, Genome research.

[7]  N. Morton,et al.  Allelic association of gene markers on chromosomes 5q and 11q with atopy and bronchial hyperresponsiveness. , 1996, American journal of respiratory and critical care medicine.

[8]  M W Perlin,et al.  Toward fully automated genotyping: genotyping microsatellite markers by deconvolution. , 1995, American journal of human genetics.

[9]  N. Morton,et al.  Exclusion from proximal 11q of a common gene with megaphenic effect on atopy , 1995, Annals of human genetics.

[10]  N E Morton,et al.  Genetic structure of forensic populations. , 1992, American journal of human genetics.

[11]  W. G. Hill,et al.  Deviations from Hardy-Weinberg proportions: sampling variances and use in estimation of inbreeding coefficients. , 1984, Genetics.

[12]  H. Lehmann.  The Distribution of the Human Blood Groups and other Polymorphisms , 1976 .

[13]  Masatoshi Nei,et al.  Genetic Distance between Populations , 1972, The American Naturalist.

[14]  N. Yasuda.  Estimation of the inbreeding coefficient from phenotype frequencies by a method of maximum likelihood scoring. , 1968, Biometrics.

[15]  Li Cc,et al.  Some methods of estimating the inbreeding coefficient. , 1953, American journal of human genetics.

[16]  N. Morton,et al.  Molecular biology and human diversity: Kinship, inbreeding, and matching probabilities , 1996 .

[17]  A. Mourant,et al.  Domaniewska-Sobczak K: The Distribution of the Human Blood Groups and Other Polymorphisms , 1976 .