CNVs of noncoding cis-regulatory elements in human disease.

  title={CNVs of noncoding cis-regulatory elements in human disease.},
  author={Malte Spielmann and Eva Klopocki},
  journal={Current opinion in genetics & development},
  volume={23 3},
Genomic rearrangements and copy-number variations (CNVs) are structural aberrations of the human genome which contribute to phenotypic variation as well as human disease. By now it is well accepted that structural aberrations affecting coding regions can have pathogenic effects, however, noncoding variants have only recently come into focus as disease-associated variants. The phenotypes associated with alterations in noncoding regions with regulatory potential can be striking and at the same… CONTINUE READING
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