Article
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Haematologica - 1 Apr 2020
Wu David, Luo Xi, Feurstein Simone, Kesserwan Chimene, Mohan Shruthi, Pineda-Alvarez Daniel E, Godley Lucy A
Abstract excerpt
The broad use of next-generation sequencing and microarray platforms in research and clinical laboratories has led to an increasing appreciation of the role of germline mutations in genes involved in hematopoiesis and lineage differentiation that contribute to myeloid neoplasms. Despite implementation of the American College of Medical Genetics and Genomics and Association for Molecular Pathology 2015 guidelines...
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