Article
Understanding genetic variants in context.
eLife - 3 Dec 2024
Sinnott-Armstrong Nasa, Fields Stanley, Roth Frederick, Starita Lea M, Trapnell Cole, Villen Judit, Fowler Douglas M, Queitsch Christine
Abstract excerpt
Over the last three decades, human genetics has gone from dissecting high-penetrance Mendelian diseases to discovering the vast and complex genetic etiology of common human diseases. In tackling this complexity, scientists have discovered the importance of numerous genetic processes - most notably functional regulatory elements - in the development and progression of these diseases. Simultaneously, scientists...
Topics
- Humans
- Genetic Variation
- Genomics
- Genetic Predisposition to Disease
- Animals
- Phenotype