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.

Study code

Lead researcher
Belen de la Morena-Barrio

Study type
Data only

Institution or company
University of Murcia, Spain

Researcher type

Speciality area
Genomics and Rare Diseases, Haematology


Not available