Author

Vicente Vicente García

NHS Blood and Transplant

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Anetta UndasiD· 1 shared Antonia Miñano· 1 shared Belén de la Morena‐BarrioiD· 1 shared Frances Lucy RaymondiD· 1 shared Francisco VidaliD· 1 shared Javier CorraliD· 1 shared Jonathan C. StephensiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

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, Luca Stefanucci, José Padilla, Antonia Miñano, Nicholas Gleadall, Juan Luis Garcı́a, María Fernanda López Fernández, Pierre‐Emmanuel Morange, Marja Kaarina Puurunen, Anetta Undas, Francisco Vidal, NIHR BioResource, Frances Lucy Raymond, , Alba Sanchis‐Juan

This study uses long-read sequencing to identify and characterize structural variants in antithrombin deficiency cases that routine methods missed.

bioRxiv · Aug 28, 2020 · PreprintGenomics