Javier Cuenca-Guardiola

Improvement of large copy number variant detection by whole genome nanopore sequencing

J. Fernández-breis, Alba Sanchis-Juan, B. de la Morena-Barrio, 2022, Journal of advanced research.

Molecular dissection of structural variations involved in antithrombin deficiency.

W. Ouwehand, J. Hernández-Rivas, J. Corral, 2022, The Journal of molecular diagnostics : JMD.

Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing

Nicholas S. Gleadall, J. Fernández-breis, Javier Cuenca-Guardiola, 2023, iScience.