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关于双等位基因遗传标记处哈迪-温伯格比例的检验以及男性和女性等位基因频率的相等性。

On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers.

作者信息

Graffelman Jan, Weir Bruce S

机构信息

Department of Statistics and Operations Research, Universitat Politècnica de Catalunya, Barcelona, Spain.

Department of Biostatistics, University of Washington, Seattle, Washington, United States of America.

出版信息

Genet Epidemiol. 2018 Feb;42(1):34-48. doi: 10.1002/gepi.22079. Epub 2017 Oct 25.

DOI:10.1002/gepi.22079
PMID:29071737
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5813254/
Abstract

Standard statistical tests for equality of allele frequencies in males and females and tests for Hardy-Weinberg equilibrium are tightly linked by their assumptions. Tests for equality of allele frequencies assume Hardy-Weinberg equilibrium, whereas the usual chi-square or exact test for Hardy-Weinberg equilibrium assume equality of allele frequencies in the sexes. In this paper, we propose ways to break this interdependence in assumptions of the two tests by proposing an omnibus exact test that can test both hypotheses jointly, as well as a likelihood ratio approach that permits these phenomena to be tested both jointly and separately. The tests are illustrated with data from the 1000 Genomes project.

摘要

用于检验男性和女性等位基因频率是否相等的标准统计检验，以及用于检验哈迪-温伯格平衡的检验，在其假设方面紧密相关。检验等位基因频率是否相等的检验假定存在哈迪-温伯格平衡，而通常用于检验哈迪-温伯格平衡的卡方检验或精确检验则假定两性中的等位基因频率相等。在本文中，我们提出了一些方法来打破这两种检验在假设上的相互依赖关系，通过提出一种可以同时检验两个假设的综合精确检验，以及一种允许对这些现象进行联合和单独检验的似然比方法。我们用来自千人基因组计划的数据对这些检验进行了说明。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/174bd48b6ef5/GEPI-42-34-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/f6488fb6cbff/GEPI-42-34-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/35dc87f624bd/GEPI-42-34-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/d5edcf2d2ab2/GEPI-42-34-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/99afdf297219/GEPI-42-34-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/61f5f3e21b97/GEPI-42-34-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/16f5fa324ca9/GEPI-42-34-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/174bd48b6ef5/GEPI-42-34-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/f6488fb6cbff/GEPI-42-34-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/35dc87f624bd/GEPI-42-34-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/d5edcf2d2ab2/GEPI-42-34-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/99afdf297219/GEPI-42-34-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/61f5f3e21b97/GEPI-42-34-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/16f5fa324ca9/GEPI-42-34-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce27/5813254/174bd48b6ef5/GEPI-42-34-g007.jpg

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