GenomicsbioRxivPreprint
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
Belén de la Morena‐Barrio, Jonathan C. Stephens, María Eugenia de la Morena‐Barrio…·Alba Sanchis‐Juan
This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.
3 citations