Exome-based sequencing is a powerful approach for studying rare genetic diseases. A new study now applies this technology to demonstrate an important role for de novo mutations in sporadic mental retardation.
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Identification of novel candidate disease genes from de novo exonic copy number variants
Genome Medicine Open Access 21 September 2017
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Lupski, J. New mutations and intellectual function. Nat Genet 42, 1036–1038 (2010). https://doi.org/10.1038/ng1210-1036
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DOI: https://doi.org/10.1038/ng1210-1036
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