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Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies

2022-06-16 genetic and genomic medicine Title + abstract only
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ImportanceHereditary hematopoietic malignancies (HHMs) are hereditary cancer syndromes that constitute at least 14% of all myeloid malignancies, but genetic assays used to diagnose HHMs have historically been of variable quality. Here, we demonstrate that HHM assays continue to have persistent shortcomings. These diagnostic gaps place patients with HHMs at high risk for missed diagnoses, missed opportunities for cancer screening, and donor-derived leukemias following stem cell transplant. Objec...

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