The human splicing code reveals new insights into the genetic determinants of disease

Hui Y. Xiong; Babak Alipanahi; Leo J. Lee; Hannes Bretschneider; Daniele Merico; Ryan K. C. Yuen; Yimin Hua; Serge Gueroussov; Hamed S. Najafabadi; Timothy R. Hughes; Quaid Morris; Yoseph Barash; Adrian R. Krainer; Nebojsa Jojic; Stephen W. Scherer; Benjamin J. Blencowe; Brendan J. Frey

doi:10.1126/science.1254806

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

Hui Y. Xiong

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Babak Alipanahi

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Leo J. Lee

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Hannes Bretschneider

Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.Department of Computer Science, University of Toronto, Toronto, Ontario M5S 3G4, Canada.

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Daniele Merico

McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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Ryan K. C. Yuen

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Yimin Hua

Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

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Serge Gueroussov

Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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Hamed S. Najafabadi

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Timothy R. Hughes

Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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Quaid Morris

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Yoseph Barash

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Adrian R. Krainer

Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

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Nebojsa Jojic

eScience Group, Microsoft Research, Redmond, WA 98052, USA.

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Stephen W. Scherer

Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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Benjamin J. Blencowe

Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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Brendan J. Frey

Department of Electrical and Computer Engineering, University of Toronto, Toronto, Ontario M5S 3G4, Canada.Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada.Program on Genetic Networks and Program on Neural Computation & Adaptive Perception, Canadian Institute for Advanced Research, Toronto, Ontario M5G 1Z8, Canada.Department of Computer Science, University of Toronto, Toronto, Ontario M5S 3G4, Canada.McLaughlin Centre, University of Toronto, Toronto, Ontario M5G 0A4, Canada.Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.eScience Group, Microsoft Research, Redmond, WA 98052, USA.

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For correspondence: frey@psi.toronto.edu

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The human splicing code reveals new insights into the genetic determinants of disease

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