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Myelodysplastic syndrome

Discriminating a common somatic ASXL1 mutation (c.1934dup; p.G646Wfs*12) from artifact in myeloid malignancies using NGS

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We thank David Spencer, Chad Storer, and Catherine Cottrell for helpful discussions; and Felicitas Thol, Torsten Haferlach, Elli Papaemmanuil, Olivier Kosmider, and R. Coleman Lindsley for discussions and data related to their publications. Support was provided to MJW through a SPORE in Leukemia grant (P50CA171963) from the National Institutes of Health/National Cancer Institute (NIH/NCI), the Edward P. Evans Foundation, the Lottie Caroline Hardy Trust, and a Leukemia and Lymphoma Society Scholar Award. Support for procurement of human samples was provided by an NIH/NCI grant (P01CA101937). Technical assistance was provided by the Alvin J. Siteman Cancer Center Tissue Procurement Core supported by an NCI Cancer Center Support Grant (P30CA91842).

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Conception and design: MOA, EJD, MJW; methodology: MOA, SNS, EJD, CAM, QG, LD, MJW; data acquisition and analysis: MOA, SNS, JS, SNM, GSC, JBD, FY, RDP; interpretation of data: MOA, SNS, MJW; writing: MOA and MJW with all authors contributing to and approving the final manuscript; project supervision: JWH, EJD, MJW.

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Correspondence to Matthew J. Walter.

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Alberti, M.O., Srivatsan, S.N., Shao, J. et al. Discriminating a common somatic ASXL1 mutation (c.1934dup; p.G646Wfs*12) from artifact in myeloid malignancies using NGS. Leukemia 32, 1874–1878 (2018).

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