Genetic & Genomic MedicinemedRxivPreprint
Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies
Gregory W. Roloff, Reid C. Shaw, Timothy Edward O'Connor, Michael William Drazer
This paper shows that diagnostic assays for hereditary hematopoietic malignancies have not improved since 2020, remaining inadequate for detecting key mutations.
DOI 10.1101/2022.06.14.22276069