An efficient algorithm for the extraction of HGVS variant descriptions from sequences. - Jonathan K. Vis; Martijn Vermaat; Peter E. M. Taschner; Joost N. Kok; Jeroen F. J. Laros (Bioinform., 2015)

Mutalyzer 2: next generation HGVS nomenclature checker. - Mihai Lefter; Jonathan K. Vis; Martijn Vermaat; Johan T. den Dunnen; Peter E. M. Taschner; Jeroen F. J. Laros (Bioinform., 2021)