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Bioinformatics (Oxford, England)|January 3, 2023
A Boolean algebra for genetic variantsJonathan K Vis, Mark A Santcroos, Walter A Kosters, et al.
BMC Genomics|May 8, 2019
BacTag - a pipeline for fast and accurate gene and allele typing in bacterial sequencing data based on database preprocessingLusine Khachatryan, Margriet E M Kraakman, Alexandra T Bernards, et al.
BMC Bioinformatics|October 14, 2011
A formalized description of the standard human variant nomenclature in Extended Backus-Naur FormJeroen F J Laros, André Blavier, Johan T den Dunnen, et al.
NAR Genomics and Bioinformatics|December 10, 2025
A graph-based approach to variant description extraction from sequencesMark A Santcroos, Walter A Kosters, Mihai Lefter, et al.
Bioinformatics (Oxford, England)|August 2, 2015
An efficient algorithm for the extraction of HGVS variant descriptions from sequencesJonathan K Vis, Martijn Vermaat, Peter E M Taschner, et al.
Journal of Proteome Research|September 29, 2022
compareMS2 2.0: An Improved Software for Comparing Tandem Mass Spectrometry DatasetsRob Marissen, Madhushri S Varunjikar, Jeroen F J Laros, et al.
Molecular Therapy. Nucleic Acids|September 6, 2021
Adenine base editing of the <i>DUX4</i> polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophyDarina Šikrová, Vlad A Cadar, Yavuz Ariyurek, et al.
Bioinformatics (Oxford, England)|February 4, 2021
Mutalyzer 2: next generation HGVS nomenclature checkerMihai Lefter, Jonathan K Vis, Martijn Vermaat, et al.
Forensic Science International. Genetics|June 1, 2018
Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefactsKristiaan J van der Gaag, Rick H de Leeuw, Jeroen F J Laros, et al.
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