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A unified genetic association test robust to latent population structure for a count phenotype.

Minsun Song
Published in: Statistics in medicine (2018)
Confounding caused by latent population structure in genome-wide association studies has been a big concern despite the success of genome-wide association studies at identifying genetic variants associated with complex diseases. In particular, because of the growing interest in association mapping using count phenotype data, it would be interesting to develop a testing framework for genetic associations that is immune to population structure when phenotype data consist of count measurements. Here, I propose a solution for testing associations between single nucleotide polymorphisms and a count phenotype in the presence of an arbitrary population structure. I consider a classical range of models for count phenotype data. Under these models, a unified test for genetic associations that protects against confounding was derived. An algorithm was developed to efficiently estimate the parameters that are required to fit the proposed model. I illustrate the proposed approach using simulation studies and an empirical study. Both simulated and real-data examples suggest that the proposed method successfully corrects population structure.
Keyphrases
  • genome wide association
  • big data
  • electronic health record
  • peripheral blood
  • genome wide
  • machine learning
  • gene expression
  • dna methylation
  • deep learning
  • high density
  • mass spectrometry
  • virtual reality