Association screening of common and rare genetic variants by penalized regression

Bioinformatics. 2010 Oct 1;26(19):2375-82. doi: 10.1093/bioinformatics/btq448. Epub 2010 Aug 6.

Abstract

Motivation: This article extends our recent research on penalized estimation methods in genome-wide association studies to the realm of rare variants.

Results: The new strategy is tested on both simulated and real data. Our findings on breast cancer data replicate previous results and shed light on variant effects within genes.

Availability: Rare variant discovery by group penalized regression is now implemented in the free program Mendel at http://www.genetics.ucla.edu/software/.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Databases, Factual
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study / methods*
  • Humans
  • Regression Analysis