Access options
Subscribe to Journal
Get full journal access for 1 year
$59.00
only $4.92 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Tax calculation will be finalised during checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
from$8.99
All prices are NET prices.
References
- 1
Schwarz, J.M., Rödelsperger, C., Schuelke, M. & Seelow, D. Nat. Methods 7, 575–576 (2010).
- 2
The 1000 Genomes Project Consortium. Nature 491, 56–65 (2012).
- 3
Landrum, M.J. et al. Nucleic Acids Res. 42, D980–D985 (2014).
- 4
Stenson, P. D. et al. Hum. Genet. 133, 1–9 (2014).
- 5
Altshuler, D.M. et al. Nature 467, 52–58 (2010).
- 6
The ENCODE Project Consortium. Nature 489, 57–74 (2012).
- 7
Portales-Casamar, E. et al. Nucleic Acids Res. 38, D105–D110 (2010).
- 8
Seelow, D., Schwarz, J.M. & Schuelke, M. PLoS ONE 3, e3874 (2008).
Acknowledgements
This work is supported by grants from the Deutsche Forschungsgemeinschaft (SFB665 TP-C4) to M.S., the Einsteinstiftung Berlin (A-2011-63) to J.M.S. and M.S. and the German Bundesministerium für Bildung und Forschung (mitoNET 01GM1113D) to D.S. and M.S. M.S. is a member of the NeuroCure Center of Excellence (Exc 257).
Author information
Affiliations
Corresponding author
Ethics declarations
Competing interests
D.N.C. receives financial support from BIOBASE GmbH through a license agreement with Cardiff University.
Supplementary information
Supplementary Information
Supplementary Table 1–3 and Methods (PDF 213 kb)
Rights and permissions
About this article
Cite this article
Schwarz, J., Cooper, D., Schuelke, M. et al. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11, 361–362 (2014). https://doi.org/10.1038/nmeth.2890
Published:
Issue Date:
Further reading
-
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing
Clinical Genetics (2021)
-
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty
Muscle & Nerve (2021)
-
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies
PLOS ONE (2021)
-
Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when
Briefings in Bioinformatics (2021)
-
CHRNB1 ‐associated congenital myasthenia syndrome: Expanding the clinical spectrum
American Journal of Medical Genetics Part A (2021)