Article
High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.
Nature genetics - 1 May 2026
Yoshida Masanori, Sahoo Sushree S, Arnold Paula Y, Gurnari Carmelo, van Leeuwen Anaïs J C N, Pu Limeng, van Roosmalen Markus J, Chang Ti-Cheng, Goodings Charnise, Mehmood Rashid, Derks Lucca L M, Gray Nathan, Boals Michelle, Lewis Sara, Kotmayer Lili, Branstetter Cristyn N, Thota Swapna, Leow Joshua, Zhang Wenchao, Li Yichao, Loyd Melanie R, Ridout Granger, Walker Emily V, LaFlamme Christy W, Mefford Heather C, Brady Zachary, Shah Yash B, Congdon Rheanna G, Erlacher Miriam, Strahm Brigitte, Yoshimi Ayami, Hirabayashi Shinsuke, Reed Helen D, Shimamura Akiko, Kang Guolian, Chen Xiang, Zhang Jinghui, Niemeyer Charlotte M, Oved Joseph H, Olson Timothy S, van Boxtel Ruben, Maciejewski Jaroslaw P, Babushok Daria V, Wlodarski Marcin W
Abstract excerpt
Aplastic anemia (AA) results from T-cell-mediated destruction of hematopoietic stem and progenitor cells (HSPCs), driving clonal hematopoiesis via loss of human leukocyte antigen (HLA) risk alleles (HLA loss-of-function mutations or uniparental disomy 6p, UPD6p), paroxysmal nocturnal hemoglobinuria and clonal hematopoiesis of indeterminate potential (CHIP) mutations. Here genomic profiling of 619 patients with AA...
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