Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.

@article{Poot2011DisentanglingTM,
  title={Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.},
  author={Martin Poot and Jasper J. van der Smagt and Eva H. Brilstra and Thomas Bourgeron},
  journal={Cytogenetic and genome research},
  year={2011},
  volume={135 3-4},
  pages={228-40}
}
Analyses of structural genome variation by array-CGH have dramatically enhanced our ability to detect copy number variations (CNVs). De novo CNVs and those co-segregating with disease in a family are generally interpreted as pathogenic. Yet, often CNVs, such as recurrent microdeletions in region 15q13.3, are not so clearly pathogenic. Here we discuss potential confounding mechanisms that may lead to the phenotypic pleiotropy of CNVs, such as unmasking of recessive alleles by hemizygous… CONTINUE READING
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