SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

@inproceedings{Vogt2014SVARI,
  title={SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints},
  author={Julia Vogt and Kathrin Bengesser and Kathleen Bm Claes and Katharina Wimmer and Victor Felix Mautner and Rick van Minkelen and Eric Legius and Hilde Brems and Meena Upadhyaya and Josef H{\"o}gel and Conxi L{\'a}zaro and Thorsten Rosenbaum and Simone Bammert and Ludwine M Messiaen and David N. Cooper and Hildegard Kehrer-Sawatzki},
  booktitle={Genome Biology},
  year={2014}
}
Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed by nonallelic homologous recombination. However, region-specific disease-associated copy number changes have also been observed which exhibit non-recurrent breakpoints. The mechanisms underlying these non-recurrent copy number changes have not yet been fully elucidated. We analyze large NF1 deletions with non-recurrent breakpoints as a model to investigate the full spectrum of causative… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 4 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 16 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 90 references

The NCBI Gene Expression Omnibus

Vogt
Genome Biology • 2014

Similar Papers

Loading similar papers…