Common and rare variants in multifactorial susceptibility to common disease
June 10, 2009
In a perspective article published in Nature Genetics, Sir Walter Bodmer and Carolina Bonilla argue that rare variants make a large contribution to the multifactorial inheritance of common diseases. They also point to two areas where studies of rare and common variants can intersect. First, they suggest that common variants might act as modifiers of rare variants, and second that genes for which common variants are identified should be considered candidates for functionally relevant rare variants. They conclude that the availability of highly efficient re-sequencing technology is critical in order to meet the challenge of identifying rare variants in disease versus control populations.
Read more at PubMed Central.
Common Genetic Variation and Human Traits in NEJM
April 28, 2009
A commentary from David Goldstein at Duke University provides an interpretation and perspective on how best to interpret and utilise data from recent experiments linking human disease and related traits to genetic variation. The April 23, 2009 publication in the New England Journal of Medicine argues the scientific community needs to build on the common variant data with much more extensive investigation of rare variants.
Genomewide Association Studies and Human Disease in NEJM
April 20, 2009
In a recent review article in the New England Journal of Medicine, John Hardy and Andrew Singleton provide an excellent overview of the concepts linking genetic variability with observed phenotypes and the methods, such as genome wide association studies and sequencing, for analysing such variability. The focus is on the genetic causes of human disease but the principles discussed are much more general.