Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants

Author:

Kasak Laura12ORCID,Bakolitsa Constantina1ORCID,Hu Zhiqiang1ORCID,Yu Changhua1,Rine Jasper3ORCID,Dimster‐Denk Dago F.3,Pandey Gaurav1ORCID,Baets Greet45ORCID,Bromberg Yana6ORCID,Cao Chen78,Capriotti Emidio9ORCID,Casadio Rita10ORCID,Durme Joost411,Giollo Manuel12ORCID,Karchin Rachel13ORCID,Katsonis Panagiotis14ORCID,Leonardi Emanuela15ORCID,Lichtarge Olivier14ORCID,Martelli Pier Luigi10ORCID,Masica David13,Mooney Sean D.16ORCID,Olatubosun Ayodeji17,Radivojac Predrag1819ORCID,Rousseau Frederic45ORCID,Pal Lipika R.7ORCID,Savojardo Castrense10ORCID,Schymkowitz Joost45ORCID,Thusberg Janita16ORCID,Tosatto Silvio C.E.12ORCID,Vihinen Mauno17ORCID,Väliaho Jouni17,Repo Susanna1ORCID,Moult John520ORCID,Brenner Steven E.1ORCID,Friedberg Iddo2122ORCID

Affiliation:

1. Department of Plant and Microbial Biology University of California Berkeley California

2. Institute of Biomedicine and Translational Medicine University of Tartu Tartu Estonia

3. California Institute for Quantitative Biosciences University of California Berkeley California

4. Switch Laboratory VIB Center for Brain and Disease Research Leuven Belgium

5. Department of Cellular and Molecular Medicine KU Leuven Leuven Belgium

6. Department of Biochemistry and Microbiology Rutgers University New Brunswick New Jersey

7. Institute for Bioscience and Biotechnology Research University of Maryland Rockville Maryland

8. Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate Program University of Maryland College Park Maryland

9. Department of Bioengineering Stanford University Stanford California

10. Biocomputing Group, Department of Pharmacy and Biotechnology University of Bologna Bologna Italy

11. VIB Switch Laboratory Vrije Universiteit Brussel Brussels Belgium

12. Department of Biomedical Sciences University of Padua Padua Italy

13. Department of Biomedical Engineering and Institute for Computational Medicine Johns Hopkins University Baltimore Maryland

14. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

15. Department for Woman and Child Health University of Padua Italy

16. Computational Biology Group Buck Institute for Research on Aging Novato California

17. Institute of Medical Technology University of Tampere Tampere Finland

18. School of Informatics and Computing Indiana University Bloomington Indiana

19. Khoury College of Computer Sciences Northeastern University Boston Massachusetts

20. Department of Cell Biology and Molecular Genetics University of Maryland College Park Maryland

21. Department of Microbiology Miami University Oxford Ohio

22. Department of Veterinary Microbiology and Preventive Medicine Iowa State University Ames Iowa

Funder

Foundation for the National Institutes of Health

Eesti Teadusagentuur

National Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference48 articles.

1. A method and server for predicting damaging missense mutations

2. SNAP: predict effect of non-synonymous polymorphisms on function

3. SNAP predicts effect of mutations on protein function

4. CAGI(2010/2011). CBS challenge dataset; Dataset available to registered users from the CAGI web site:https://genomeinterpretation.org/content/cagi‐2011‐results.

5. A three-state prediction of single point mutations on protein stability changes

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