Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Penetrance and expressivity have been defined through clinical experience. Although
penetrance is often seen as the end of the spectrum of expressivity, penetrance and …

Abstract Background/Aims: Many complex diseases show a diversity of inheritance patterns
ranging from familial disease, manifesting with autosomal dominant inheritance, through to …

It is becoming increasingly apparent that certain phenotypes are inherited across
generations independent of the information contained in the DNA sequence, by factors in …

Little is known about the nature of genetic variation underlying complex diseases in humans.
One popular view proposes that mapping efforts should focus on identification of …

The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …

Epistasis or modifier genes, that is, gene-gene interactions of non-allelic partners, play a
major role in susceptibility to common human diseases. This old genetic concept has …

Family-based procedures such as the transmission disequilibrium test (TDT) were motivated
by concern that sample-based methods to map disease genes by allelic association are not …

The phenotypic differences between individual organisms can often be ascribed to
underlying genetic and environmental variation. However, even genetically identical …