Article
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Human molecular genetics - 21 Jul 2022
Brunet Theresa, Berutti Riccardo, Dill Veronika, Hecker Judith S, Choukair Daniela, Andres Stephanie, Deschauer Marcus, Diehl-Schmid Janine, Krenn Martin, Eckstein Gertrud, Graf Elisabeth, Gasser Thomas, Strom Tim M, Hoefele Julia, Götze Katharina S, Meitinger Thomas, Wagner Matias
Abstract excerpt
Clonal hematopoiesis because of somatic mutations in hematopoietic stem/progenitor cells is an age-related phenomenon and commonly observed when sequencing blood DNA in elderly individuals. Several genes that are implicated in clonal hematopoiesis are also associated with Mendelian disorders when mutated in the germline, potentially leading to variant misinterpretation. We performed a literature search to...
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