Related Experiment Video
Updated: Aug 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
The importance of genetic disease and the need for prevention
1Department of Biochemistry, University of Oxford, U.K.
Abstract:
Until recently the effects of disease could only be reduced by prevention and treatment. It is now possible to interrupt development after fetal diagnosis. This prevents birth, but not the cause of the disease, and is usefully termed 'avoidance'. Genetic disorders are the consequence of mutational events in the past, including the remote and the immediate past, and prevention, in its true sense, can only be applied to preventing further mutations. This requires a knowledge both of the mechanism of mutation and of the mutagens to which populations and individuals are exposed, and the maintenance of public health requires the collection of data relevant to mutational disease.
More Related Videos
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
06:24Comparison of Two Representative Methods for Differentiation of Human Induced Pluripotent Stem Cells into Mesenchymal Stromal Cells
Published on: October 20, 2023
Related Concept Videos
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Cancer Prevention
Some...
Cancer Prevention
Some...
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenomics: Identification of New Drug Targets
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...