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Activity Number: 527 - Contributed Poster Presentations: Section on Statistics in Genomics and Genetics
Type: Contributed
Date/Time: Wednesday, July 31, 2019 : 10:30 AM to 12:20 PM
Sponsor: Section on Statistics in Genomics and Genetics
Abstract #306996
Title: Testing Complex Survey Data for Hardy-Weinberg Equilibrium on the X Chromosome: Utilizing Male and Female Data
Author(s): John R. Pleis*
Companies: NCHS
Keywords: genetics; survey; Hardy-Weinberg; X-chromosome; NCHS; CDC

Traditionally, in genetic association studies, Hardy-Weinberg Equilibrium (HWE) for X chromosome variants has been tested using female subjects only. This is because male subjects are hemizygous for X chromosome variants. Recent work by Graffelman and Weir (2016) indicated that male subjects may be informative particularly if minor allele frequencies for X chromosome data differ between males and females. However, these methods have not been evaluated for complex survey genetic data such as that emanating from the National Health and Nutrition Examination Survey (NHANES), conducted by the National Center for Health Statistics, U.S. Centers for Disease Control and Prevention. Therefore, for this presentation, we will be extending the work of Graffelman and Weir to the complex survey setting by adapting HWE methods for autosomal complex survey data (e.g., Wald tests) to variants from the X chromosome. The proposed methods will be evaluated via simulation and compared to existing HWE approaches for X chromosome data (e.g., only determining HWE for female subjects).

Authors who are presenting talks have a * after their name.

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