Any organism is a by-product of both its genetic makeup and the environment. To understand this in detail, we must first appreciate some basic genetic vocabulary and concepts. Here, we provide ...

To determine the association between genotype and phenotype in patients with RB, the investigators conducted a single-center retrospective cohort study of 1404 consecutive unrelated individuals ...

A new study analyzing the association between an individual's genetics (genotype) and their observable characteristics resulting from the interaction of genetics and the environment (phenotype), ...

Cancers are genetic diseases driven by recurrent sets of somatic mutations. Different mutations associate statistically with distinct disease risks and can therefore be useful prognostic markers. But, ...

Hyperphenylalaninemia (HPA) is a group of diseases characterized by the persistent elevation of phenylalanine (Phe) levels in tissues and biological fluids. The most frequent form is phenylalanine ...

Overall, the current study represents a comprehensive evaluation of an important patient cohort. Continued efforts to understand the factors that influence LFS phenotype, the interaction between these ...

A simple treatment regimen that is effective in a broad range of patients who are chronically infected with the hepatitis C virus (HCV) remains an unmet medical need. We conducted a phase 3, ...