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Open Access
Peer-reviewed
Research Article
Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations
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Katherine R. Bull ,
Contributed equally to this work with: Katherine R. Bull, Andrew J. Rimmer
Affiliations Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom, MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
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Andrew J. Rimmer ,
Contributed equally to this work with: Katherine R. Bull, Andrew J. Rimmer
Affiliation Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom
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Owen M. Siggs,
Affiliations Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom, MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
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Lisa A. Miosge,
Affiliation Department of Immunology, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia
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Carla M. Roots,
Affiliation Department of Immunology, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia
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Anselm Enders,
Affiliation Department of Immunology, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia
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Edward M. Bertram,
Affiliations Department of Immunology, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia, Australian Phenomics Facility, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia
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Tanya L. Crockford,
Affiliations Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom, MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
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Belinda Whittle,
Affiliation Australian Phenomics Facility, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia
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Paul K. Potter,
Affiliation MRC Mammalian Genetics Unit, Harwell, United Kingdom
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Michelle M. Simon,
Affiliation MRC Mammalian Genetics Unit, Harwell, United Kingdom
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Ann-Marie Mallon,
Affiliation MRC Mammalian Genetics Unit, Harwell, United Kingdom
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Steve D. M. Brown,
Affiliation MRC Mammalian Genetics Unit, Harwell, United Kingdom
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Bruce Beutler,
Affiliation UT Southwestern Medical Center, Dallas, Texas, United States of America
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Christopher C. Goodnow,
Affiliation Department of Immunology, The John Curtin School of Medical Research, The Australian National University, Canberra, Australia
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Gerton Lunter ,
* E-mail: gerton.lunter@well.ox.ac.uk (GL); rcornall@well.ox.ac.uk (RJC)
Affiliation Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom
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Richard J. Cornall
* E-mail: gerton.lunter@well.ox.ac.uk (GL); rcornall@well.ox.ac.uk (RJC)
Affiliations Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom, MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
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Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations
- Katherine R. Bull,
- Andrew J. Rimmer,
- Owen M. Siggs,
- Lisa A. Miosge,
- Carla M. Roots,
- Anselm Enders,
- Edward M. Bertram,
- Tanya L. Crockford,
- Belinda Whittle,
- Paul K. Potter
- Published: January 31, 2013
- https://doi.org/10.1371/journal.pgen.1003219