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Research Article
The human splicing code reveals new insights into the genetic determinants of disease
- Hui Y. Xiong1,2,3,*,
- Babak Alipanahi1,2,3,*,
- Leo J. Lee1,2,3,*,
- Hannes Bretschneider1,3,4,
- Daniele Merico5,6,7,
- Ryan K. C. Yuen5,6,7,
- Yimin Hua8,
- Serge Gueroussov2,7,
- Hamed S. Najafabadi1,2,3,
- Timothy R. Hughes2,3,7,
- Quaid Morris1,2,3,7,
- Yoseph Barash1,2,9,
- Adrian R. Krainer8,
- Nebojsa Jojic10,
- Stephen W. Scherer3,5,6,7,
- Benjamin J. Blencowe2,5,7,
- Brendan J. Frey1,2,3,4,5,7,10,†
- 1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
- 2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
- 3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
- 4Department of Computer Science, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
- 5McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.
- 6Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
- 7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
- 8Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
- 9School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
- 10eScience Group, Microsoft Research, Redmond, WA 98052, USA.
- ↵†Corresponding author. E-mail: frey{at}psi.toronto.edu
-
↵* These authors contributed equally to this work.
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Science 09 Jan 2015:
Vol. 347, Issue 6218, 1254806
DOI: 10.1126/science.1254806
Vol. 347, Issue 6218, 1254806
DOI: 10.1126/science.1254806
Hui Y. Xiong
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
Babak Alipanahi
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
Leo J. Lee
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
Hannes Bretschneider
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
4Department of Computer Science, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
Daniele Merico
5McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.
6Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Ryan K. C. Yuen
5McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.
6Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Yimin Hua
8Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Serge Gueroussov
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Hamed S. Najafabadi
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
Timothy R. Hughes
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Quaid Morris
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Yoseph Barash
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
9School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Adrian R. Krainer
8Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
Nebojsa Jojic
10eScience Group, Microsoft Research, Redmond, WA 98052, USA.
Stephen W. Scherer
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
5McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.
6Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Benjamin J. Blencowe
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
5McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Brendan J. Frey
1Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
2Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.
3Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.
4Department of Computer Science, University of Toronto, Toronto, Ontario M5S 3G4, Canada.
5McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.
7Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
10eScience Group, Microsoft Research, Redmond, WA 98052, USA.
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