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Digenic inheritance and Mendelian disease

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.

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Figure 1: Digenic inheritance and genetic interaction in FSHD2.

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Correspondence to James R Lupski.

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Lupski, J. Digenic inheritance and Mendelian disease. Nat Genet 44, 1291–1292 (2012). https://doi.org/10.1038/ng.2479

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