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Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

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Date: 28th August 2020 | Source: bioRxiv

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 K Puurun, Anetta Undas, Francisco Vidal, NIHR BioResource, F Lucy Raymond, Vicente Vicente García, Willem H Ouwehand, Javier Corral, Alba Sanchis-Juan.

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Structural variation Clinical research PromethION Long Reads DNA