Convergent somatic evolution commences in utero in a germline ribosomopathy
Convergent somatic evolution commences in utero in a germline ribosomopathy
About this item
Full title
Author / Creator
Machado, Heather E. , Øbro, Nina F. , Williams, Nicholas , Tan, Shengjiang , Boukerrou, Ahmed Z. , Davies, Megan , Belmonte, Miriam , Mitchell, Emily , Baxter, E. Joanna , Mende, Nicole , Clay, Anna , Ancliff, Philip , Köglmeier, Jutta , Killick, Sally B. , Kulasekararaj, Austin , Meyer, Stefan , Laurenti, Elisa , Campbell, Peter J. , Kent, David G. , Nangalia, Jyoti and Warren, Alan J.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Clonal tracking of cells using somatic mutations permits exploration of clonal dynamics in human disease. Here, we perform whole genome sequencing of 323 haematopoietic colonies from 10 individuals with the inherited ribosomopathy Shwachman-Diamond syndrome to reconstruct haematopoietic phylogenies. In ~30% of colonies, we identify mutually exclusi...
Alternative Titles
Full title
Convergent somatic evolution commences in utero in a germline ribosomopathy
Authors, Artists and Contributors
Author / Creator
Øbro, Nina F.
Williams, Nicholas
Tan, Shengjiang
Boukerrou, Ahmed Z.
Davies, Megan
Belmonte, Miriam
Mitchell, Emily
Baxter, E. Joanna
Mende, Nicole
Clay, Anna
Ancliff, Philip
Köglmeier, Jutta
Killick, Sally B.
Kulasekararaj, Austin
Meyer, Stefan
Laurenti, Elisa
Campbell, Peter J.
Kent, David G.
Nangalia, Jyoti
Warren, Alan J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_83d4535580c848179ab239f1596e4673
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_83d4535580c848179ab239f1596e4673
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-023-40896-5
