BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data. - Ken Chen 001; John W. Wallis; Cyriac Kandoth; Joelle M. Kalicki-Veizer; Karen L. Mungall; Andrew J. Mungall; Steven J. M. Jones; Marco A. Marra; Timothy J. Ley; Elaine R. Mardis; Richard K. Wilson; John N. Weinstein; et al. (Bioinform., 2012)

MAVIS: merging, annotation, validation, and illustration of structural variants. - Caralyn Reisle; Karen L. Mungall; Caleb Choo; Daniel Paulino; Dustin W. Bleile; Amir Muhammadzadeh; Andrew J. Mungall; Richard A. Moore; Inna Shlafman; Robin Coope; Stephen Pleasance; Yussanne Ma; et al. (Bioinform., 2019)

Enhancing clinical genomic accuracy with panelGC: a novel metric and tool for quantifying and monitoring GC biases in hybridization capture panel sequencing. - Xuanjin Cheng; Murathan T. Goktas; Laura M. Williamson; Martin Krzywinski; David T. Mulder; Lucas Swanson; Jill Slind; Jelena Sihvonen; Cynthia R. Chow; Amy Carr; Ian Bosdet; Tracy Tucker; et al. (Briefings Bioinform., 2024)