Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders
Kate Downes, Karyn Mégy, Daniel Duarte, Minka J. A. Vries, Johanna Gebhart, Stefanie Höfer, Olga Shamardina, Sri VV Deevil, Jonathan Stephens, Rutendo P. Mapeta, Salih Tuna, Namir Al Hasso, Martin W. Besser, Nichola Cooper, Louise C. Daugherty, , Kathleen Freson
The paper reports a diagnostic HTS test for bleeding, thrombotic, and platelet disorders, identifying molecular diagnoses in 897 out of 2,390 patients.
bioRxiv · Dec 21, 2018 · PreprintGenetics