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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Single-cell paired-end genome sequencing reveals structural variation per cell cycle
Nucleic Acids Research, Volume 41, No. 12, Year 2013
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Description
The nature and pace of genome mutation is largely unknown. Because standard methods sequence DNA from populations of cells, the genetic composition of individual cells is lost, de novo mutations in cells are concealed within the bulk signal and per cell cycle mutation rates and mechanisms remain elusive. Although single-cell genome analyses could resolve these problems, such analyses are error-prone because of whole-genome amplification (WGA) artefacts and are limited in the types of DNA mutation that can be discerned. We developed methods for paired-end sequence analysis of single-cell WGA products that enable (i) detecting multiple classes of DNA mutation, (ii) distinguishing DNA copy number changes from allelic WGA-amplification artefacts by the discovery of matching aberrantly mapping read pairs among the surfeit of paired-end WGA and mapping artefacts and (iii) delineating the break points and architecture of structural variants. By applying the methods, we capture DNA copy number changes acquired over one cell cycle in breast cancer cells and in blastomeres derived from a human zygote after in vitro fertilization. Furthermore, we were able to discover and fine-map a heritable inter-chromosomal rearrangement t(1;16)(p36;p12) by sequencing a single blastomere. The methods will expedite applications in basic genome research and provide a stepping stone to novel approaches for clinical genetic diagnosis. © 2013 The Author(s) 2013. Published by Oxford University Press.
Authors & Co-Authors
Voet, Thierry
Belgium, Leuven
Ku Leuven
United Kingdom, Hinxton
Wellcome Sanger Institute
Van Loo, Peter
United Kingdom, Hinxton
Wellcome Sanger Institute
Belgium, Leuven
Ku Leuven
Cooke, Susanna L.
United Kingdom, Hinxton
Wellcome Sanger Institute
Teague, Jon W.
United Kingdom, Hinxton
Wellcome Sanger Institute
Butler, Adam P.
United Kingdom, Hinxton
Wellcome Sanger Institute
Quail, Michael A.
United Kingdom, Hinxton
Wellcome Sanger Institute
D'Hooghe, Thomas Maria
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Moreau, Yves
Belgium, Leuven
Ku Leuven
Futreal, Phillip Andrew
United Kingdom, Hinxton
Wellcome Sanger Institute
United States, Houston
The University of Texas Md Anderson Cancer Center
Michael R. Stratton, Michael R.
United Kingdom, Hinxton
Wellcome Sanger Institute
Vermeesch, Joris Robert
Belgium, Leuven
Ku Leuven
Campbell, Peter J.
United Kingdom, Hinxton
Wellcome Sanger Institute
United Kingdom, Cambridge
Addenbrooke's Hospital
United Kingdom, Cambridge
University of Cambridge
Statistics
Citations: 142
Authors: 12
Affiliations: 6
Identifiers
Doi:
10.1093/nar/gkt345
ISSN:
13624962
Research Areas
Cancer
Genetics And Genomics
Study Design
Case-Control Study