@article{ZaumNandaKressetal.2022,
  author    = {Zaum, Ann-Kathrin and Nanda, Indrajit and Kress, Wolfram and Rost, Simone},
  title     = {Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing},
  series = {Molecular Genetics \& Genomic Medicine},
  volume    = {10},
  journal   = {Molecular Genetics \& Genomic Medicine},
  number    = {10},
  doi       = {10.1002/mgg3.2028},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-293940},
  year      = {2022},
  abstract  = {Background Dystrophinopathies caused by variants in the DMD gene are a well-studied muscle disease. The most common type of variant in DMD are large deletions. Very rarely reported forms of variants are chromosomal translocations, inversions and deep intronic variants (DIVs) because they are not detectable by standard diagnostic techniques (sequencing of coding sequence, copy number variant detection). This might be the reason that some clinically and histologically proven dystrophinopathy cases remain unsolved. Methods We used whole genome sequencing (WGS) to screen the entire DMD gene for variants in one of two brothers suffering from typical muscular dystrophy with strongly elevated creatine kinase levels. Results Although a pathogenic DIV could not be detected, we were able to identify a pericentric inversion with breakpoints in DMD intron 44 and Xq13.3, which could be confirmed by Sanger sequencing in the index as well as in his brother and mother. As this variation affects a major part of DMD it is most likely disease causing. Conclusion Our findings elucidate that WGS is capable of detecting large structural rearrangements and might be suitable for the genetic diagnostics of dystrophinopathies in the future. In particular, inversions might be a more frequent cause for dystrophinopathies as anticipated and should be considered in genetically unsolved dystrophinopathy cases.},
  language  = {en}
}
@article{HornKellerHildebrandtetal.2016,
  author    = {Horn, Hannes and Keller, Alexander and Hildebrandt, Ulrich and K{\"a}mpfer, Peter and Riederer, Markus and Hentschel, Ute},
  title     = {Draft genome of the \(Arabidopsis\) \(thaliana\) phyllosphere bacterium, \(Williamsia\) sp. ARP1},
  series = {Standards in Genomic Sciences},
  volume    = {11},
  journal   = {Standards in Genomic Sciences},
  number    = {8},
  doi       = {10.1186/s40793-015-0122-x},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-146008},
  year      = {2016},
  abstract  = {The Gram-positive actinomycete \(Williamsia\) sp. ARP1 was originally isolated from the \(Arabidopsis\) \(thaliana\) phyllosphere. Here we describe the general physiological features of this microorganism together with the draft genome sequence and annotation. The 4,745,080 bp long genome contains 4434 protein-coding genes and 70 RNA genes. To our knowledge, this is only the second reported genome from the genus \(Williamsia\) and the first sequenced strain from the phyllosphere. The presented genomic information is interpreted in the context of an adaptation to the phyllosphere habitat.},
  language  = {en}
}