Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency

Authors: Belén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, Luca Stefanucci, José Padilla, Antonia Miñano, Nicholas Gleadall, Juan Luis García, María Fernanda López-Fernández, Pierre-Emmanuel Morange, Marja Puurunen , Anetta Undas, Francisco Vidal, Frances Lucy Raymond, Vicente Vicente, Willem H. Ouwehand, Javier Corral, & Alba Sanchis-Juan