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Somatic and germline genetics at the JAK2 locus

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Myeloproliferative neoplasms are hematological malignancies frequently associated with somatically acquired mutation of the JAK2 gene. A new study shows that these mutations are preferentially found within a particular inherited JAK2 haplotype, implying the existence of a strong, but uncharacterized, interaction between somatic and germline genetics at this locus.

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Figure 1: Hypotheses for interactions between germline and somatic genetic change.

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Campbell, P. Somatic and germline genetics at the JAK2 locus. Nat Genet 41, 385–386 (2009). https://doi.org/10.1038/ng0409-385

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