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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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ey0020.13-2 | Section | ESPEYB20

13.2. Somatic mutation rates scale with lifespan across mammals

A Cagan , A Baez-Ortega , N Brzozowska , F Abascal , THH Coorens , MA Sanders , ARJ Lawson , LMR Harvey , S Bhosle , D Jones , RE Alcantara , TM Butler , Y Hooks , K Roberts , E Anderson , S Lunn , E Flach , S Spiro , I Januszczak , E Wrigglesworth , H Jenkins , T Dallas , N Masters , MW Perkins , R Deaville , M Druce , R Bogeska , MD Milsom , B Neumann , F Gorman , F Constantino-Casas , L Peachey , D Bochynska , ESJ Smith , M Gerstung , PJ Campbell , EP Murchison , MR Stratton , I Martincorena

In Brief: To document variations in rates of somatic mutations, the authors performed whole-genome sequencing of DNA from cells of intestinal crypts across 16 diverse mammalian species, spanning huge 40 000-fold variations in body mass and 30-fold variations in lifespan. The somatic mutation rates per year varied greatly across species and showed a much stronger inverse relationship with species lifespan than with species body mass.Comment: Petos p...

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ESPE Yearbook of Paediatric Endocrinology

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

13.2. Somatic mutation rates scale with lifespan across mammals

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