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.

See allHide authors and affiliations

Science 09 Jan 2015:
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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Yimin Hua

8Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Adrian R. Krainer

8Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Nebojsa Jojic

10eScience Group, Microsoft Research, Redmond, WA 98052, USA.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site
For correspondence: frey@psi.toronto.edu

Article
Figures & Data
Info & Metrics
eLetters
PDF

eLetters is an online forum for ongoing peer review. Submission of eLetters are open to all. eLetters are not edited, proofread, or indexed. Please read our Terms of Service before submitting your own eLetter.

Submit a Response to This Article

Compose eLetter

Title

Contents

More information about text formats

Plain text

Plain text
No HTML tags allowed.
Web page addresses and e-mail addresses turn into links automatically.
Lines and paragraphs break automatically.

Author Information

Contributors
First name and middle name First or given name, e.g. 'Peter'. Last Name Your last, or family, name, e.g. 'MacMoody'. Email Your email address, e.g. higgs-boson@gmail.com Role / Occupation Your role and/or occupation, e.g. 'Orthopedic Surgeon'. Affiliation Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.

Statement of Competing Interests

Competing interests?

Yes

Please describe the competing interests

CAPTCHA

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

No eLetters have been published for this article.

View Full Text

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

Plain text

Vertical Tabs

Science

Article Tools