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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

2023Journal of Thrombosis and Haemostasis12 citationsDOIOpen Access PDF

Topics & Concepts

Nanopore sequencingMinionNanoporeCompound heterozygosityGeneticsDNA sequencingBiologyExonExome sequencingspliceComputational biologyGeneMutationMaterials scienceNanotechnologyPlatelet Disorders and TreatmentsBlood disorders and treatmentsMolecular Biology Techniques and Applications
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders | Litcius