A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form. - Jeroen F. J. Laros; André Blavier; Johan T. den Dunnen; Peter E. M. Taschner (BMC Bioinform., 2011)

VarioML framework for comprehensive variation data representation and exchange. - Myles Byrne; Ivo F. A. C. Fokkema; Owen Lancaster; Tomasz Adamusiak; Anni Ahonen-Bishopp; David Atlan; Christophe Béroud; Michael Cornell; Raymond Dalgleish; Andrew Devereau; George P. Patrinos; Morris A. Swertz; et al. (BMC Bioinform., 2012)

Preserving sequence annotations across reference sequences. - Zuotian Tatum; Marco Roos; Andrew P. Gibson; Peter E. M. Taschner; Mark Thompson 002; Erik A. Schultes; Jeroen F. J. Laros (J. Biomed. Semant., 2014)

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)