publication . Article . Other literature type . 2003

On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit

Tzeng, Jung-Ying; Devlin, B.; Wasserman, Larry; Roeder, Kathryn;
Open Access English
  • Published: 01 Apr 2003 Journal: The American Journal of Human Genetics, issue 4, pages 891-902 (issn: 00029297, Copyright policy)
  • Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
The observation that haplotypes from a particular region of the genome differ between affected and unaffected individuals or between chromosomes transmitted to affected individuals versus those not transmitted is sound evidence for a disease-liability mutation in the region. Tests for differentiation of haplotype distributions often take the form of either Pearson’s χ2 statistic or tests based on the similarity among haplotypes in the different populations. In this article, we show that many measures of haplotype similarity can be expressed in the same quadratic form, and we give the general form of the variance. As we describe, these methods can be applied to e...
free text keywords: Genetics(clinical), Genetics, Genetic marker, Genetic determinism, Goodness of fit, Statistical hypothesis testing, Statistic, Haplotype, Genome, Cluster analysis, Biology, Articles
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