Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

Ju, Young Seok; Martincorena, Inigo; Gerstung, Moritz; Petljak, Mia; Alexandrov, Ludmil B.; Rahbari, Raheleh; Wedge, David C.; Davies, Helen R.; Ramakrishna, Manasa; Fullam, Anthony; Martin, Sancha; Alder, Christopher; Patel, Nikita; Gamble, Steve; O’Meara, Sarah; Giri, Dilip D.; Sauer, Torril; Pinder, Sarah E.; Purdie, Colin A.; Borg, Åke; Stunnenberg, Henk; van de Vijver, Marc; Tan, Benita K. T.; Caldas, Carlos; Tutt, Andrew; Ueno, Naoto T.; van ’t Veer, Laura J.; Martens, John W. M.; Sotiriou, Christos; Knappskog, Stian; Span, Paul N.; Lakhani, Sunil R.; Eyfjörd, Jórunn Erla; Børresen-Dale, Anne-Lise; Richardson, Andrea; Thompson, Alastair M.; Viari, Alain; Hurles, Matthew E.; Nik-Zainal, Serena; Campbell, Peter J.; Stratton, Michael R.

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

Young Seok Ju, Inigo Martincorena, Moritz Gerstung, Mia Petljak, Ludmil B. Alexandrov, Raheleh Rahbari, David C. Wedge, Helen R. Davies, Manasa Ramakrishna, Anthony Fullam, Sancha Martin, Christopher Alder, Nikita Patel, Steve Gamble, Sarah O’Meara, Dilip D. Giri, Torril Sauer, Sarah E. Pinder, Colin A. Purdie, Åke Borg, Henk Stunnenberg, Marc van de Vijver, Benita K. T. Tan, Carlos Caldas, Andrew Tutt, Naoto T. Ueno, Laura J. van ’t Veer, John W. M. Martens, Christos Sotiriou, Stian Knappskog, Paul N. Span, Sunil R. Lakhani, Jórunn Erla Eyfjörd, Anne-Lise Børresen-Dale, Andrea Richardson, Alastair M. Thompson, Alain Viari, Matthew E. Hurles, Serena Nik-Zainal, Peter J. Campbell and Michael R. Stratton ()
Additional contact information
Young Seok Ju: Cancer Genome Project, Wellcome Trust Sanger Institute
Inigo Martincorena: Cancer Genome Project, Wellcome Trust Sanger Institute
Moritz Gerstung: Cancer Genome Project, Wellcome Trust Sanger Institute
Mia Petljak: Cancer Genome Project, Wellcome Trust Sanger Institute
Ludmil B. Alexandrov: Cancer Genome Project, Wellcome Trust Sanger Institute
Raheleh Rahbari: Genomic Mutation and Genetic Disease, Wellcome Trust Sanger Institute
David C. Wedge: Cancer Genome Project, Wellcome Trust Sanger Institute
Helen R. Davies: Cancer Genome Project, Wellcome Trust Sanger Institute
Manasa Ramakrishna: Cancer Genome Project, Wellcome Trust Sanger Institute
Anthony Fullam: Cancer Genome Project, Wellcome Trust Sanger Institute
Sancha Martin: Cancer Genome Project, Wellcome Trust Sanger Institute
Christopher Alder: Cancer Genome Project, Wellcome Trust Sanger Institute
Nikita Patel: Cancer Genome Project, Wellcome Trust Sanger Institute
Steve Gamble: Cancer Genome Project, Wellcome Trust Sanger Institute
Sarah O’Meara: Cancer Genome Project, Wellcome Trust Sanger Institute
Dilip D. Giri: Memorial Sloan-Kettering Cancer Center
Torril Sauer: Institute of Clinical Medicine, Campus at Akershus University Hospital, University of Oslo
Sarah E. Pinder: King’s Health Partners Cancer Biobank, Guy’s Hospital, King’s College London School of Medicine
Colin A. Purdie: Ninewells Hospital and Medical School
Åke Borg: BioCare, Strategic Cancer Research Program
Henk Stunnenberg: Radboud University Medical Center
Marc van de Vijver: Academic Medical Center
Benita K. T. Tan: SingHealth Duke-NUS Breast Centre, National Cancer Centre Singapore, Singapore General Hospital
Carlos Caldas: Cancer Research UK (CRUK) Cambridge Institute, University of Cambridge
Andrew Tutt: Breast Cancer Now Research Unit, King’s College London
Naoto T. Ueno: The University of Texas MD Anderson Cancer Center
Laura J. van ’t Veer: Helen Diller Family Comprehensive Cancer Center, University of California
John W. M. Martens: Erasmus MC Cancer Institute, Erasmus University Medical Center
Christos Sotiriou: Institut Jules Bordet
Stian Knappskog: Section of Oncology, University of Bergen
Paul N. Span: Radboud University Medical Center
Sunil R. Lakhani: University of Queensland, School of Medicine
Jórunn Erla Eyfjörd: Cancer Research Laboratory, University of Iceland
Anne-Lise Børresen-Dale: Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital
Andrea Richardson: Johns Hopkins Medicine
Alastair M. Thompson: The University of Texas MD Anderson Cancer Center
Alain Viari: Plateforme Gilles Thomas, Synergie Lyon Cancer, Centre Léon Bérard
Matthew E. Hurles: Genomic Mutation and Genetic Disease, Wellcome Trust Sanger Institute
Serena Nik-Zainal: Cancer Genome Project, Wellcome Trust Sanger Institute
Peter J. Campbell: Cancer Genome Project, Wellcome Trust Sanger Institute
Michael R. Stratton: Cancer Genome Project, Wellcome Trust Sanger Institute

Nature, 2017, vol. 543, issue 7647, 714-718

Abstract: Whole-genome sequencing of normal blood cells sampled from 241 adults is used to infer mosaic point mutations that are likely to have arisen during early embryogenesis, providing insight into how early cellular dynamics may affect adult tissues.

Date: 2017
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DOI: 10.1038/nature21703

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