Status quo of annotation of human disease variants

Hanka Venselaar, Franscesca Camilli, Shima Gholizadeh, Marlou Snelleman, Han G. Brunner, Gert Vriend. Status quo of annotation of human disease variants. BMC Bioinformatics, 14:352, 2013. [doi]

@article{VenselaarCGSBV13,
  title = {Status quo of annotation of human disease variants},
  author = {Hanka Venselaar and Franscesca Camilli and Shima Gholizadeh and Marlou Snelleman and Han G. Brunner and Gert Vriend},
  year = {2013},
  doi = {10.1186/1471-2105-14-352},
  url = {http://dx.doi.org/10.1186/1471-2105-14-352},
  researchr = {https://researchr.org/publication/VenselaarCGSBV13},
  cites = {0},
  citedby = {0},
  journal = {BMC Bioinformatics},
  volume = {14},
  pages = {352},
}