This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study
Annals of Hematology Open Access 09 January 2023
-
Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease
BMC Genomics Open Access 12 December 2022
-
Proteogenomic insights into the biology and treatment of pancreatic ductal adenocarcinoma
Journal of Hematology & Oncology Open Access 25 November 2022
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Rent or buy this article
Get just this article for as long as you need it
$39.95
Prices may be subject to local taxes which are calculated during checkout
References
Wheeler, D.A. et al. Nature 452, 872–876 (2008).
Hand, D.J. & Yu, K.M. Int. Stat. Rev. 69, 385–398 (2001).
Mi, H. et al. Nucleic Acids Res. 33, D284–D288 (2005).
Ferrer-Costa, C. et al. Bioinformatics. 21, 3176–3178 (2005).
Adzhubei, I.A. et al. Nat. Methods 7, 248–249 (2010).
Bromberg, Y. & Rost, B. Nucleic Acids Res. 35, 3823–3835 (2007).
Acknowledgements
This project was supported by the Deutsche Forschungsgemeinschaft via the NeuroCure Cluster of Excellence, Exc 257, and the Collaborative Research Center 665 TP C4. M.S. and D.S. are members of the German network for mitochondrial disorders (mitoNET, 01GM0862), funded by the German ministry of education and research (BMBF). We thank H. Peters for providing mutation data, M. Zhang and M. Reese for allowing us to integrate polyadq and NNSplice, E. Lüdeking for proofreading the manuscript, and all beta users whose valuable recommendations guided the development of MutationTaster.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Supplementary information
Supplementary Text and Figures
Supplementary Methods (PDF 399 kb)
Rights and permissions
About this article
Cite this article
Schwarz, J., Rödelsperger, C., Schuelke, M. et al. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7, 575–576 (2010). https://doi.org/10.1038/nmeth0810-575
Issue Date:
DOI: https://doi.org/10.1038/nmeth0810-575
This article is cited by
-
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
Molecular Genetics and Genomics (2023)
-
Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study
Annals of Hematology (2023)
-
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited
Journal of Clinical Immunology (2023)
-
Proteogenomic insights into the biology and treatment of pancreatic ductal adenocarcinoma
Journal of Hematology & Oncology (2022)
-
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
BMC Medical Genomics (2022)