A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

Inherited bleeding disorders (IBDs) comprise an extremely heterogeneous group of diseases that reflect abnormalities of blood vessels, coagulation proteins, and platelets. Previously the UK‐GAPP study has used whole‐exome sequencing in combination with deep platelet phenotyping to identify pathogeni...

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Veröffentlicht in:	Human mutation 2020-11, Vol.41 (11), p.1848-1865
Hauptverfasser:	Almazni, Ibrahim, Stapley, Rachel J., Khan, Abdullah O., Morgan, Neil V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Bleeding Blood coagulation Blood vessels CNV Copy number Genetic disorders Genetic diversity Hemophilia inherited bleeding Phenotyping platelet disorders Platelets SNV thrombocytopenia variant interpretation whole‐exome sequencing
Online-Zugang:	Volltext
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