A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Journal Articles

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abstract

Key Points Developed a targeted sequencing platform covering 63 genes linked to heritable bleeding, thrombotic, and platelet disorders. The ThromboGenomics platform provides a sensitive genetic test to obtain molecular diagnoses in patients with a suspected etiology.

authors

status

published

publication date

June 9, 2016

has subject area

1102 Cardiorespiratory Medicine and Haematology (FoR)
1103 Clinical Sciences (FoR)
1114 Paediatrics and Reproductive Medicine (FoR)
Blood Platelet Disorders (MeSH)
Case-Control Studies (MeSH)
DNA Copy Number Variations (MeSH)
Female (MeSH)
Genetic Association Studies (MeSH)
Genetic Predisposition to Disease (MeSH)
Hemorrhage (MeSH)
High-Throughput Nucleotide Sequencing (MeSH)
Humans (MeSH)
Immunology (Science Metrix)
Male (MeSH)
Mutation (MeSH)
Polymorphism, Single Nucleotide (MeSH)
Sequence Analysis, DNA (MeSH)
Thrombosis (MeSH)

published in

Blood Journal