Oligogenic inheritance of a human heart disease involving a genetic modifier

Abstract excerpt

Three rights can make a wrong Many diseases are thought to arise from co-inheritance of rare genetic variants that are benign on their own but harmful in combination. This hypothesis has been difficult to validate by functional experiments. Gifford et al. sequenced the genomes of two parents who were asymptomatic and their three children, all of whom had early-onset heart disease. They identified three likely...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathy and Myosin Studies
• Share to Congenital heart defects research
• Share to Genomics and Rare Diseases