Related Experiment Video
Updated: Jun 22, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Common vs. rare allele hypotheses for complex diseases
Nicholas J Schork1, Sarah S Murray, Kelly A Frazer
1Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States. nschork@scripps.edu
Abstract:
There has been growing debate over the nature of the genetic contribution to individual susceptibility to common complex diseases such as diabetes, osteoporosis, and cancer. The 'Common Disease, Common Variant (CDCV)' hypothesis argues that genetic variations with appreciable frequency in the population at large, but relatively low 'penetrance' (or the probability that a carrier of the relevant variants will express the disease), are the major contributors to genetic susceptibility to common diseases. The 'Common Disease, Rare Variant (CDRV)' hypothesis, on the contrary, argues that multiple rare DNA sequence variations, each with relatively high penetrance, are the major contributors to genetic susceptibility to common diseases. Both hypotheses have their place in current research efforts.
Related Concept Videos
Multiple Allele Traits
Multiple Allele Traits
Genetic Lingo
Pedigree Analysis
Hardy-Weinberg Principle
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

