High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

@article{Groth2008HighresolutionMO,
  title={High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.},
  author={Marco Groth and Karol Szafranski and Stefan Taudien and Klaus Huse and O. M{\"u}ller and Philip Rosenstiel and Anders O. H. Nygren and Stefan Schreiber and Gerd Birkenmeier and Matthias Platzer},
  journal={Human mutation},
  year={2008},
  volume={29 10},
  pages={1247-54}
}
One unexpected feature of the human genome is the high structural variability across individuals. Frequently, large regions of the genome show structural polymorphisms and many vary in their abundance. However, accurate methods for the characterization and typing of such copy number variations (CNV) are needed. The defensin cluster at the human region 8p23.1 is one of the best studied CNV regions due to its potential clinical relevance for innate immunity, inflammation, and cancer. The region… CONTINUE READING

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