Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

A targeted high-throughput sequencing (HTS) panel test for clinical diagnostics requires careful consideration of the inclusion of appropriate diagnostic-grade genes, the ability to detect multiple types of genomic variation with high levels of analytic sensitivity and reproducibility, and variant i...

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Publicat a:Blood
Autors principals: Downes, Kate, Megy, Karyn, Duarte, Daniel, Vries, Minka, Gebhart, Johanna, Hofer, Stefanie, Shamardina, Olga, Deevi, Sri V. V., Stephens, Jonathan, Mapeta, Rutendo, Tuna, Salih, Al Hasso, Namir, Besser, Martin W., Cooper, Nichola, Daugherty, Louise, Gleadall, Nick, Greene, Daniel, Haimel, Matthias, Martin, Howard, Papadia, Sofia, Revel-Vilk, Shoshana, Sivapalaratnam, Suthesh, Symington, Emily, Thomas, Will, Thys, Chantal, Tolios, Alexander, Penkett, Christopher J., Ouwehand, Willem H., Abbs, Stephen, Laffan, Michael A., Turro, Ernest, Simeoni, Ilenia, Mumford, Andrew D., Henskens, Yvonne M. C., Pabinger, Ingrid, Gomez, Keith, Freson, Kathleen
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2019
Matèries:
Thrombosis and Hemostasis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6993014/
https://ncbi.nlm.nih.gov/pubmed/31064749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2018891192
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