Babelomics 5.0: functional interpretation for new generations of genomic data. - Roberto Alonso; Francisco Salavert; Francisco García-García 002; José Carbonell-Caballero; Marta Bleda; Luz Garcia-Alonso; Alba Sanchis-Juan; Daniel Perez-Gil; Pablo Marín-García; Rubén Sánchez 002; Cankut Çubuk; Marta R. Hidalgo; et al. (Nucleic Acids Res., 2015)

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions. - Egor Dolzhenko; Viraj Deshpande; Felix Schlesinger; Peter Krusche; Roman Petrovski; Sai Chen; Dorothea Emig-Agius; Andrew Gross; Giuseppe Narzisi; Brett Bowman; Konrad Scheffler; Joke J. F. A van Vugt; et al. (Bioinform., 2019)

Whole-genome sequencing of patients with rare diseases in a national health system. - Ernest Turro; William J. Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; et al. (Nat., 2020)