| People | Locations | Statistics |
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| Naji, M. |
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| Motta, Antonella |
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| Aletan, Dirar |
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| Mohamed, Tarek |
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| Ertürk, Emre |
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| Taccardi, Nicola |
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| Kononenko, Denys |
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| Petrov, R. H. | Madrid |
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| Alshaaer, Mazen | Brussels |
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| Bih, L. |
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| Casati, R. |
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| Muller, Hermance |
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| Kočí, Jan | Prague |
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| Šuljagić, Marija |
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| Kalteremidou, Kalliopi-Artemi | Brussels |
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| Azam, Siraj |
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| Ospanova, Alyiya |
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| Blanpain, Bart |
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| Ali, M. A. |
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| Popa, V. |
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| Rančić, M. |
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| Ollier, Nadège |
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| Azevedo, Nuno Monteiro |
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| Landes, Michael |
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| Rignanese, Gian-Marco |
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Morgan, Neil
University of Birmingham
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (4/4 displayed)
- 2023Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation frameworkcitations
- 2023Understanding Rock-Steel interface properties for use in offshore applicationscitations
- 2018Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleedingcitations
- 2017Chalk-steel Interface testing for marine energy foundationscitations
Places of action
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article
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation framework
Abstract
Background: Inherited bleeding, thrombotic, and platelet disorders (BTPDs) are a heterogeneous set ofdiseases, many of which are globally very rare. Over the past five decades, the genetic basis ofsome of these disorders has been identified, and recently, high-throughput sequencing hasbecome the primary means of identifying disease-causing genetic variants.<br/><br/>Objectives: Knowledge of the clinical validity of a gene-disease relationship is essential to both providing anaccurate diagnosis based on results of diagnostic gene panel tests and informing theconstruction of such panels. The Scientific and Standardization Committee for Genetics inThrombosis and Haemostasis undertook a curation process for selecting 96 TIER1 genes forBTPDs. The purpose was to evaluate the evidence supporting each gene-disease relationshipand provide an expert-reviewed classification for the clinical validity of genes associated withBTPDs. Methods The ClinGen Hemostasis/Thrombosis Gene Curation Expert Panel (HT GCEP) assessed thestrength of evidence for TIER1 genes using the semi-quantitative ClinGen gene disease clinicalvalidity framework. ClinGen lumping and splitting guidelines were used to determine theappropriate disease entity, or entities, for each gene and 101 gene-disease relationships wereidentified for curation. <br/><br/>Results: The final outcome included 68 Definitive (67%), 26 Moderate (26%), and seven Limited (7%)classifications. The summary of each curation is available on the ClinGen website. <br/><br/>Conclusions: Expert-reviewed assignment of gene-disease relationships by the HT GCEP facilitates accuratemolecular diagnoses for BTPDs by clinicians and diagnostic laboratories. These curation effortscan allow genetic testing to focus on genes with a validated role in disease.<br/>