Article
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel.
Genes, chromosomes & cancer - 1 Jul 2024
Orsmark-Pietras Christina, Lyander Anna, Ladenvall Claes, Hallström Björn, Staffas Anna, Awier Hero, Krstic Aleksandra, Baliakas Panagiotis, Barbany Gisela, Håkansson Cecilia Brunhoff, Gellerbring Anna, Hagström Anna, Hellström-Lindberg Eva, Juliusson Gunnar, Lazarevic Vladimir, Munters Arielle, Pandzic Tatjana, Wadelius Mia, Ås Joel, Fogelstrand Linda, Wirta Valtteri, Rosenquist Richard, Cavelier Lucia, Fioretos Thoas
Abstract excerpt
Gene panel sequencing has become a common diagnostic tool for detecting somatically acquired mutations in myeloid neoplasms. However, many panels have restricted content, provide insufficient sensitivity levels, or lack clinically validated workflows. We here describe the development and validation of the Genomic Medicine Sweden myeloid gene panel (GMS-MGP), a capture-based 191 gene panel including mandatory...
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