HGVA: the Human Genome Variation Archive. - Javier López; Jacobo Coll; Matthias Haimel; Swaathi Kandasamy; Joaquín Tárraga; Pedro Furió-Tarí; Wasim Bari; Marta Bleda; Antonio Rueda; Stefan Gräf; Augusto Rendon; Joaquín Dopazo; et al. (Nucleic Acids Res., 2017)

PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources. - Daniel Perez-Gil; Francisco J. Lopez; Joaquín Dopazo; Pablo Marín-García; Augusto Rendon; Ignacio Medina (BMC 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)