Genome sequencing identifies major causes of severe intellectual disability

@article{Gilissen2014GenomeSI,
  title={Genome sequencing identifies major causes of severe intellectual disability},
  author={C. Gilissen and J. Hehir-Kwa and D. T. Thung and M. Vorst and B. V. Bon and M. Willemsen and M. Kwint and I. Janssen and A. Hoischen and A. Schenck and R. Leach and Robert Klein and R. Tearle and Tan Bo and R. Pfundt and H. Yntema and B. Vries and T. Kleefstra and H. Brunner and Lisenka E. L. M. Vissers and J. Veltman},
  journal={Nature},
  year={2014},
  volume={511},
  pages={344-347}
}
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin. The extensive genetic heterogeneity of this disorder requires a genome-wide detection of all types of genetic variation. Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single-nucleotide variations (SNVs) in ID, but the majority of cases remain undiagnosed. Here we applied whole-genome sequencing to… Expand
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