For citation purposes: Mallick H, Li M. Penalised regression methods in genetic research. OA Genetics 2013 Jul 01;1(1):7.

Critical review

Disease Association Studies

Penalised regression methods in genetic research

H Mallick, M Li

Authors affiliations

(1) Department of Biostatistics, University of Alabama at Birmingham, Birmingham, Alabama, USA

(2) Division of Biostatistics, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

* Corresponding author Email:



Complex human diseases usually have multifactorial causes, and may develop as a result of the collective effects of multiple genetic variants, complex gene-gene/gene-environment interactions, rare sequence variants, copy number alterations, epigenetic modifications, etc. Understanding the genetic aetiology of complex human diseases require a comprehensive assessment of these causes. Recently, penalised regression methods have gained popularity in genetic research, aiming to detect genetic, epigenetic and environmental factors contributing to complex human diseases. In this article, we attempt to provide a brief overview of these methods in light of their applications in various contexts of genetic research.


These methods are built on the assumption that, given a genotype-phenotype association, the genetic similarity would contribute to the phenotype similarity and aggregate multiple rare and common variants through the genetic similarities between individuals.

Licensee OA Publishing London 2013. Creative Commons Attribution License (CC-BY)