Copy Number Variation.

  title={Copy Number Variation.},
  author={A. Mac{\'e} and Zolt{\'a}n Kutalik and Armand Valsesia},
  journal={Methods in molecular biology},
Differences between genomes can be due to single nucleotide variants (SNPs), 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 250 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… CONTINUE READING