Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Omar Soukarieh; Pascaline Gaildrat; Mohamad Hamieh; Aurélie Drouet; Stéphanie Baert-Desurmont; Thierry Frébourg; Mario Tosi; Alexandra Martins

doi:10.1371/journal.pgen.1005756

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Open Access

Peer-reviewed

Research Article

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Omar Soukarieh,

Affiliation Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Pascaline Gaildrat,

Affiliation Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Mohamad Hamieh,

Current Address: The Center for Cell Engineering, Memorial Sloan Kettering Cancer Center; Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America

Affiliation Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Aurélie Drouet,

Affiliation Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Stéphanie Baert-Desurmont,

Affiliations Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France, Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Thierry Frébourg,

Affiliations Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France, Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Mario Tosi,

Affiliation Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯
Alexandra Martins

* E-mail: alexandra.martins@univ-rouen.fr

Affiliation Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
⨯

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Omar Soukarieh,
Pascaline Gaildrat,
Mohamad Hamieh,
Aurélie Drouet,
Stéphanie Baert-Desurmont,
Thierry Frébourg,
Mario Tosi,
Alexandra Martins

Published: January 13, 2016
https://doi.org/10.1371/journal.pgen.1005756

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Reverse transcriptase-polymerase chain reaction
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Exon mapping
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Mutation
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Bioinformatics
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Introns
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RNA splicing
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Nucleotides
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RNA analysis
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