Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 67,446 bioRxiv papers from 297,057 authors.

On a Unifying 'Reverse' Regression for Robust Association Studies and Allele Frequency Estimation with Related Individuals

By Lin Zhang, Lei Sun

Posted 14 Nov 2018
bioRxiv DOI: 10.1101/470328

For genetic association studies with related individuals, standard linear mixed-effect model is the most popular approach. The model treats a complex trait (phenotype) as the response variable while a genetic variant (genotype) as a covariate. An alternative approach is to reverse the roles of phenotype and genotype. This class of tests includes quasi-likelihood based score tests. In this work, after reviewing these existing methods, we propose a general, unifying 'reverse' regression framework. We then show that the proposed method can also explicitly adjust for potential departure from Hardy-Weinberg equilibrium. Lastly, we demonstrate the additional flexibility of the proposed model on allele frequency estimation, as well as its connection with earlier work of best linear unbiased allele-frequency estimator. We conclude the paper with supporting evidence from simulation and application studies.

Download data

  • Downloaded 196 times
  • Download rankings, all-time:
    • Site-wide: 49,110 out of 67,446
    • In genetics: 2,918 out of 3,790
  • Year to date:
    • Site-wide: 40,796 out of 67,446
  • Since beginning of last month:
    • Site-wide: 48,905 out of 67,446

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News