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Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders
View ORCID ProfileAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Gavin Arno, Andrew R Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, NIHR BioResource, Willem H Ouwehand, F Lucy Raymond, Keren J Carss
doi: https://doi.org/10.1101/281683
Alba Sanchis-Juan
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Jonathan Stephens
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Courtney E French
3Department of Paediatrics, University of Cambridge, Cambridge CB2 0QQ, UK
Nicholas Gleadall
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Karyn Mégy
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Christopher Penkett
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Kathleen Stirrups
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Isabelle Delon
4Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK
Eleanor Dewhurst
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Helen Dolling
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Marie Erwood
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Detelina Grozeva
5Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
Gavin Arno
6UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK
7Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK
Andrew R Webster
6UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK
7Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK
Trevor Cole
8University Hospitals Birmingham, West Midlands Genomic Medicine Centre, West Midlands GMC, WMGMC, UK
Topun Austin
4Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK
Ricardo Garcia Branco
4Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK
Willem H Ouwehand
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
F Lucy Raymond
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
5Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
Keren J Carss
1Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK
2NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK
Article usage
Posted March 14, 2018.
Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders
Alba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Gavin Arno, Andrew R Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, NIHR BioResource, Willem H Ouwehand, F Lucy Raymond, Keren J Carss
bioRxiv 281683; doi: https://doi.org/10.1101/281683
Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders
Alba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Gavin Arno, Andrew R Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, NIHR BioResource, Willem H Ouwehand, F Lucy Raymond, Keren J Carss
bioRxiv 281683; doi: https://doi.org/10.1101/281683
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