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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References
Lemmers, R.J.L.F. et al. Nat. Genet. 44, 1370–1374 (2012).
van der Maarel, S.M., Tawil, R. & Tapscott, S.J. Trends Mol. Med. 17, 252–258 (2011).
Blewitt, M.E. et al. Proc. Natl. Acad. Sci. USA 102, 7629–7634 (2005).
Kajiwara, K., Berson, E.L. & Dryja, T.P. Science 264, 1604–1608 (1994).
Loewen, C.J., Moritz, O.L. & Molday, R.S. J. Biol. Chem. 276, 22388–22396 (2001).
Katsanis, N. et al. Science 293, 2256–2259 (2001).
Davis, E.E. et al. Nat. Genet. 43, 189–196 (2011).
Potocki, L. et al. Am. J. Hum. Genet. 64, 471–478 (1999).
El-Hattab, A.W. et al. Genet. Med. 12, 573–586 (2010).
Girirajan, S. et al. Nat. Genet. 42, 203–209 (2010).
Albers, C.A. et al. Nat. Genet. 44, 435–439 (2012).
Marth, G.T. et al. Genome Biol. 12, R84 (2011).
Lupski, J.R., Belmont, J.W., Boerwinkle, E. & Gibbs, R.A. Cell 147, 32–43 (2011).
Girirajan, S. et al. N. Engl. J. Med. 367, 1321–1331 (2012).
de Ligt, J. et al. N. Engl. J. Med. published online, doi:10.1056/NEJMoa1206524 (3 October 2012).
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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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DOI: https://doi.org/10.1038/ng.2479
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