On the identification of disease mutations by the analysis of haplotype similarity and goodness of fit

Jung Ying Tzeng, B. Devlin, Larry Wasserman, Kathryn Roeder

研究成果: Article同行評審

111 引文 斯高帕斯(Scopus)

摘要

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 either phase-known or phase-unknown data. We investigate the performance of Pearson's χ2 statistic and haplotype similarity tests through use of evolutionary simulations. We show that both approaches can be powerful, but under quite different conditions. Moreover, we show that the power of both approaches can be enhanced by clustering rare haplotypes from the distributions before performing a test.

原文English
頁(從 - 到)891-902
頁數12
期刊American Journal of Human Genetics
72
發行號4
DOIs
出版狀態Published - 2003 四月 1

All Science Journal Classification (ASJC) codes

  • 遺傳學
  • 遺傳學(臨床)

指紋

深入研究「On the identification of disease mutations by the analysis of haplotype similarity and goodness of fit」主題。共同形成了獨特的指紋。

引用此