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ey0019.15-18 | Basic Science and Genetics | ESPEYB19

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

N Williams , J Lee , E Mitchell , L Moore , EJ Baxter , J Hewinson , KJ Dawson , A Menzies , AL Godfrey , AR Green , PJ Campbell , J Nangalia

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 2081 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...

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ey0019.14-16 | Genetics | ESPEYB19

14.16. The mutational landscape of human somatic and germline cells

Moore Luiza , Cagan Alex , Coorens Tim H H , Neville Matthew D C , Sanghvi Rashesh , Sanders Mathijs A , Oliver Thomas R W , Leongamornlert Daniel , Ellis Peter , Noorani Ayesha , Mitchell Thomas J , Butler Timothy M , Hooks Yvette , Warren Anne Y , Jorgensen Mette , Dawson Kevin J , Menzies Andrew , O'Neill Laura , Latimer Calli , Teng Mabel , van Boxtel Ruben , Iacobuzio-Donahue Christine A , Martincorena Inigo , Heer Rakesh , Campbell Peter J , Fitzgerald Rebecca C , Stratton Michael R , Rahbari Raheleh

Nature. 2021 Sep;597(7876):381386. doi: 10.1038/s41586-021-03822-7.Brief Summary: This study investigated the mutational background of somatic cells and rates of mutation in 29 distinct anatomical structures and compared these with the male germline from the same donor. The rate of mutation was lowest in spermatogonia.Characterization of mutations that occur in...

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ESPE Yearbook of Paediatric Endocrinology

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

14.16. The mutational landscape of human somatic and germline cells

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