The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

@inproceedings{Valsesia2013TheGI,
  title={The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation},
  author={Armand Valsesia and Aur{\'e}lien Mac{\'e} and S{\'e}bastien Jacquemont and Jacques S. Beckmann and Zolt{\'a}n Kutalik},
  booktitle={Front. Genet.},
  year={2013}
}
Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are strongly associated with morbid consequences such as developmental disorders and cancer. Detecting CNVs within and between populations is essential to better understand the plasticity of our genome… CONTINUE READING

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