RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

Tomasz Stokowy, Mateusz Garbulowski, Torunn Fiskerstrand, Rita Holdhus, Kornel Labun, Pawel Sztromwasser, Christian Gilissen, Alexander Hoischen, Gunnar Houge, Kjell Petersen, Inge Jonassen, Vidar M. Steen. RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. Bioinformatics, 32(19):3018-3020, 2016. [doi]

@article{StokowyGFHLSGHH16,
  title = {RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data},
  author = {Tomasz Stokowy and Mateusz Garbulowski and Torunn Fiskerstrand and Rita Holdhus and Kornel Labun and Pawel Sztromwasser and Christian Gilissen and Alexander Hoischen and Gunnar Houge and Kjell Petersen and Inge Jonassen and Vidar M. Steen},
  year = {2016},
  doi = {10.1093/bioinformatics/btw359},
  url = {http://dx.doi.org/10.1093/bioinformatics/btw359},
  researchr = {https://researchr.org/publication/StokowyGFHLSGHH16},
  cites = {0},
  citedby = {0},
  journal = {Bioinformatics},
  volume = {32},
  number = {19},
  pages = {3018-3020},
}