Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
Ana Zamora‐Cánovas, Belén de la Morena‐Barrio, Ana Marín‐Quilez, Cristina Sierra‐Aisa, Christoph Male, Nuria Fernández‐Mosteirín, María Trapero-Marugán, José Padilla, Pedro Garrido, Ana Sánchez‐Fuentes, Agustín Rodríguez‐Alén, Pedro Luis Gómez‐González, Nuria Revilla, María Eugenia de la Morena‐Barrio, José María Bastida, Javier Corral, José Rivera, Marı́a Luisa Lozano
Topics & Concepts
Nanopore sequencingMinionNanoporeCompound heterozygosityGeneticsDNA sequencingBiologyExonExome sequencingspliceComputational biologyGeneMutationMaterials scienceNanotechnologyPlatelet Disorders and TreatmentsBlood disorders and treatmentsMolecular Biology Techniques and Applications