Article

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

2022-06-16

Abstract excerpt

<h4>Importance</h4> Hereditary 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 opportuni...

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Literature Corpus work: c7847cda-9036-55e8-b3da-5ef4f169f3e2
DOI: 10.1101/2022.06.14.22276069

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