Digenic inheritance and Mendelian disease

Nat Genet. 2012 Dec;44(12):1291-2. doi: 10.1038/ng.2479.

Abstract

Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.

MeSH terms

  • Epigenesis, Genetic
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Muscular Dystrophy, Facioscapulohumeral / genetics*