Platelets—blood cells continuously produced from megakaryocytes mainly in the bone
marrow—are implicated not only in haemostasis and arterial thrombosis, but also in other …

Genetic sequencing technologies are evolving at a rapid pace with major implications for
research and clinical practice. In this review, the authors provide an updated overview of …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Immune thrombocytopenia (ITP) is an autoimmune disease defined by low platelet counts
which presents with an increased bleeding risk. Several genetic risk factors (eg …

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 …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …

The introduction of high throughput sequencing (HTS) techniques greatly improved the
knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different …

Variations in platelet number, volume, and function are largely genetically controlled, and
many loci associated with platelet traits have been identified by genome-wide association …