Design and setting of a comprehensive workflow that integrates a targeted Long-Read Sequencing assay with ultra-high sequencing depth and an automated analytical pipeline to detect HMGA2 deletions (Δ3’HMGA2). The screening assay was validated in two independent cohorts including samples from 323 myeloproliferative patients.
A novel approach for highly sensitive and rapid identification of HMGA2 submicroscopic deletions in myeloproliferative neoplasms / Niccolò Bartalucci, Danilo Tarantino, Alessio Enderti, Daniele Colazzo, Paola Guglielmelli, Alessandro M Vannucchi. - In: LEUKEMIA. - ISSN 0887-6924. - STAMPA. - (2025), pp. 2042-2045. [10.1038/s41375-025-02678-4]
A novel approach for highly sensitive and rapid identification of HMGA2 submicroscopic deletions in myeloproliferative neoplasms
Niccolò Bartalucci;Alessio Enderti;Daniele Colazzo;Paola Guglielmelli;Alessandro M Vannucchi
2025
Abstract
Design and setting of a comprehensive workflow that integrates a targeted Long-Read Sequencing assay with ultra-high sequencing depth and an automated analytical pipeline to detect HMGA2 deletions (Δ3’HMGA2). The screening assay was validated in two independent cohorts including samples from 323 myeloproliferative patients.
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