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Genetic studies have enhanced diagnostic accuracy for many bleeding and clotting disorders, such as hemophilia, von Willebrand disease, platelet defects, and venous thromboembolism. But even though the whole genome or prespecified regions of the genome have been sequenced, the clinical relevance of mutations discovered during sequencing is often uncertain. To address this concern, international investigators constructed a high-throughput sequencing platform (ThromboGenomics) and assessed its accuracy in detecting causal variants in 63 genes associated with bleeding disorders. A multidisciplinary team reviewed patient phenotypes and sequencing results and declared whether variants were pathogenic.
Sequencing of 159 samples from 61 patients wi…