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DAA067
Use of long-read nanopore sequencing and short-read whole genome sequencing to resolve individuals with antithrombin deficiency, a rare disease which increase the risk of thrombosis, with unknown molecular base.
Genomics and Rare Diseases Haematology
Lead ResearcherDr Belén de la Morena-Barrio
Study TypeData only
InstitutionUniversity of Murcia (Department of Medicine), Spain
Researcher TypeAcademic
Study summary
This project aims to resolve by nanopore sequencing patients with antithrombin deficiency, a rare disease which significantly increase the risk of thrombosis, in patients with no mutation detected to date in order to fully characterise them.
