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Testing for Hardy-Weinberg equilibrium at biallelic genetic markers on the X chromosome

Author
Graffelman, J.; Weir, B.
Type of activity
Journal article
Journal
Heredity
Date of publication
2016-04-13
Volume
116
Number
6
First page
558
Last page
568
DOI
https://doi.org/10.1038/hdy.2016.20 Open in new window
Project funding
Métodos Estadísticos en Espacios Restringidos (Metrics)
Statistical MEthods in resTRICted spaceS
Repository
http://hdl.handle.net/2117/85774 Open in new window
URL
http://www.nature.com/hdy/journal/vaop/ncurrent/full/hdy201620a.html Open in new window
Abstract
Testing genetic markers for Hardy-Weinberg equilibrium (HWE) is an important tool for detecting genotyping errors in large-scale genotyping studies. For markers at the X chromosome, typically the chi(2) or exact test is applied to the females only, and the hemizygous males are considered to be uninformative. In this paper we show that the males are relevant, because a difference in allele frequency between males and females may indicate HWE not to hold. The testing of markers on the X chromosome...
Citation
Graffelman, J., Weir, B. Testing for Hardy–Weinberg equilibrium at biallelic genetic markers on the X chromosome. "Journal of heredity", 13 Abril 2016.
Keywords
ASSOCIATION, PACKAGE, PLOT, PROPORTIONS
Group of research
COSDA-UPC - COmpositional and Spatial Data Analysis

Participants

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