SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing-Reference-Cited by-同舟云学术

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Published:2022-11-20 Issue:12 Volume:43 Page:2308-2323
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Leman Raphaël¹²³^ORCID,Parfait Béatrice⁴,Vidaud Dominique⁴,Girodon Emmanuelle⁴^ORCID,Pacot Laurence⁴,Le Gac Gérald⁵,Ka Chandran⁵,Ferec Claude⁵,Fichou Yann⁵,Quesnelle Céline¹,Aucouturier Camille¹²,Muller Etienne¹,Vaur Dominique¹²,Castera Laurent¹²,Boulouard Flavie¹²,Ricou Agathe¹²,Tubeuf Hélène²⁶^ORCID,Soukarieh Omar²,Gaildrat Pascaline²,Riant Florence⁷,Guillaud‐Bataille Marine⁸,Caputo Sandrine M.⁹^ORCID,Caux‐Moncoutier Virginie⁹,Boutry‐Kryza Nadia¹⁰,Bonnet‐Dorion Françoise¹¹,Schultz Ines¹²,Rossing Maria¹³,Quenez Olivier²^ORCID,Goldenberg Louis²,Harter Valentin¹⁴,Parsons Michael T.¹⁵^ORCID,Spurdle Amanda B.¹⁵^ORCID,Frébourg Thierry²¹⁶,Martins Alexandra²^ORCID,Houdayer Claude²¹⁶,Krieger Sophie¹²³

Affiliation:

1. Laboratoire de Biologie et Génétique du Cancer Centre François Baclesse Caen France

2. Inserm U1245, UNIROUEN, FHU‐G4 génomique Normandie Université Rouen France

3. UNICAEN Normandie Université Caen France

4. Service de Génétique et Biologie Moléculaires, APHP, HUPC Hôpital Cochin Paris France

5. Inserm UMR1078, Genetics, Functional Genomics and Biotechnology Université de Bretagne Occidentale Brest France

6. Integrative Biosoftware Rouen France

7. Laboratoire de Génétique, AP‐HP GH Saint‐Louis‐Lariboisière‐Fernand Widal Paris France

8. Département de Biopathologie, Gustave Roussy Université Paris‐Saclay Villejuif France

9. Department of Genetics, Institut Curie Paris Sciences Lettres Research University Paris France

10. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents Hospices Civils de Lyon Lyon France

11. Departement de Biopathologie Unité de Génétique Constitutionnelle Institut Bergonie—INSERM U1218 Bordeaux France

12. Laboratoire d'Oncogénétique Centre Paul Strauss Strasbourg France

13. Centre for Genomic Medicine, Rigshospitalet University of Copenhagen Copenhagen Denmark

14. Department of Biostatistics Baclesse Unicancer Center Caen France

15. Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute Herston Queensland Australia

16. Department of genetics Rouen University Hospital Rouen France

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24491

Reference53 articles.

1. Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency

2. Splicing mutations in human genetic disorders: examples, detection, and confirmation

3. Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

4. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

5. Characterization of splice-altering mutations in inherited predisposition to cancer

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