The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes
Open accessAbstract
We have developed a web tool, PupasView, for the selection of single nucleotide polymorphisms (SNPs) with potential phenotypic effect. PupasView constitutes an interactive environment in which functional information and population frequency data can be used as sequential filters over linkage disequilibrium parameters to obtain a final list of SNPs optimal for genotyping purposes. PupasView is the first resource that integrates phenotypic effects caused by SNPs at both the translational and the transcriptional level. PupasView retrieves SNPs that could affect conserved regions that the cellular machinery uses for the correct processing of genes (intron/exon boundaries or exonic splicing enhancers), predicted transcription factor binding sites and changes in amino acids in the proteins for which a putative pathological effect is calculated. The program uses the mapping of SNPs in the genome provided by Ensembl. PupasView will be of much help in studies of multifactorial disorders, where the use of functional SNPs will increase the sensitivity of the identification of the genes responsible for the disease. The PupasView web interface is accessible through http://pupasview.ochoa.fib.es and through http://www.pupasnp.org.
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The Structure of Haplotype Blocks in the Human Genome
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Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
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Simonson, T. S., Yang, Y., Huff, C. D., Yun, H., Qin, G., Witherspoon, D. J., Bai, Z., Lorenzo, F. R., Xing, J., Jorde, L. B., et al. (2010) · Science · doi:10.1126/science.1189406 · Cited by 1,227
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Specific expression of long noncoding RNAs in the mouse brain
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Metadata
- Authors
- Conde, L., Vaquerizas, J. M., Ferrer-Costa, C., de la Cruz, X., Orozco, M., & Dopazo, J.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-07-01
- Volume
- 33
- Issue
- Web Server
- Pages
- W501-W505
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2118675686
- Cited by
- 305
- References
- 7
- FWCI
- 16.64
- Type
- journal article
- Language
- en
- Open access
- gold
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- Conde, L., Vaquerizas, J. M., Ferrer-Costa, C., de la Cruz, X., Orozco, M., & Dopazo, J. (2005). PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes. Nucleic Acids Research. https://doi.org/10.1093/nar/gki476
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