In Genetics, as per laws of father of Genetics Gregor Mendel, interaction of alleles produce a particular genotype and hence express the expected phenotype (External Morphology). We assume e.g that Rr ...

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 individuals. Such variants ...

From the Cardiovascular Division and Howard Hughes Medical Institute, Brigham and Women’s Hospital (D.W.B., D.F., C.T.B., B.M., C.E.S.), the Department of Genetics ...

It is commonly accepted that the majority of observed mutations demonstrate variable expressivity and incomplete penetrance. However, in most cases the causes of these widespread phenomena are unknown ...

Interpretation of next-generation sequencing data of individuals with an apparent sporadic neurodevelopmental disorder (NDD) often focusses on pathogenic variants in genes associated with NDD, ...

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Abstract: This paper discusses expressivity and accuracy of the By-Example Structured (BESt) Query paradigm implemented on the SWiPE system through the Wikipedia interface. We define an experimental ...

Von Recklinghausen disease is autosomal dominant, but has very variable expressivity among affected individuals (i.e. there is a range of symptoms and signs that occur in different people with NF1).