The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes
Open accessAbstract
We have developed a web tool, PupaSuite, for the selection of single nucleotide polymorphisms (SNPs) with potential phenotypic effect, specifically oriented to help in the design of large-scale genotyping projects. PupaSuite uses a collection of data on SNPs from heterogeneous sources and a large number of pre-calculated predictions to offer a flexible and intuitive interface for selecting an optimal set of SNPs. It improves the functionality of PupaSNP and PupasView programs and implements new facilities such as the analysis of user's data to derive haplotypes with functional information. A new estimator of putative effect of polymorphisms has been included that uses evolutionary information. Also SNPeffect database predictions have been included. The PupaSuite web interface is accessible through http://pupasuite.bioinfo.cipf.es and through http://www.pupasnp.org.
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Cites
The Structure of Haplotype Blocks in the Human Genome
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The FoldX web server: an online force field
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“Next to various external tools SNPeffect uses algorithms developed at the collaborating research groups, among which Tango (20) to predict b-aggregation regions in protein sequences and FoldX (21) to predict the stability change caused by the single amino acid variation.”
BackgroundMethodInfluentialSelf-citationListening to silence and understanding nonsense: exonic mutations that affect splicing
Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
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A vision for the future of genomics research
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Cited by
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease
Cruchaga, C., Kauwe, J. S. K., Harari, O., Jin, S. C., Cai, Y., Karch, C. M., Benitez, B. A., Jeng, A. T., Skorupa, T., Carrell, D., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.026 · Cited by 383
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
EMBRACE, Kuchenbaecker, K. B., Collaborators, G. S., Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Ramus, S. J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3185 · Cited by 250
Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease
Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Bales, K., Pickering, E. H., Mayo, K., Bertelsen, S., Hinrichs, A., Fagan, A. M., Holtzman, D. M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds296 · Cited by 207
Chelala, C., Khan, A., & Lemoine, N. R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btn653 · Cited by 200
Metadata
- Authors
- Conde, L., Vaquerizas, J. M., Dopazo, H., Arbiza, L., Reumers, J., Rousseau, F., Schymkowitz, J., & Dopazo, J.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-07-01
- Volume
- 34
- Issue
- Web Server
- Pages
- W621-W625
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2093245824
- Cited by
- 200
- References
- 7
- FWCI
- 11.49
- Type
- journal article
- Language
- en
- Open access
- gold
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- Conde, L., Vaquerizas, J. M., Dopazo, H., Arbiza, L., Reumers, J., Rousseau, F., Schymkowitz, J., & Dopazo, J. (2006). PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Research. https://doi.org/10.1093/nar/gkl071
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