Evaluating the role of reference models in copy number variation analyses

Ivonne Jarick, Anke Hinney, Johannes Hebebrand & Helmut Schäfer
Besides single nucleotide polymorphisms (SNPs), copy number variations (CNVs) as another important component of genomic variation have gained much attention with regard to human phenotypic diversity. CNVs, being defined as segments of DNA that are larger than 1 kb in size and that are present at variable[for full text, please go to the a.m. URL]