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Genetic Variation

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans.

Submitted by iguillen on Thu, 07/04/2019 - 12:40
Capriotti E, Arbiza L, Casadio R, Dopazo J, Dopazo H, Marti-Renom MA. Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans. Hum Mutat. 2008;29(1):198-204. doi:10.1002/humu.20628.

Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies.

Submitted by iguillen on Fri, 06/28/2019 - 14:23
Medina I, Montaner D, Bonifaci N, et al. Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies. Nucleic Acids Res. 2009;37(Web Server issue):W340-4. doi:10.1093/nar/gkp481.

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Submitted by iguillen on Fri, 06/28/2019 - 13:56
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Submitted by iguillen on Tue, 06/25/2019 - 12:16
Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Submitted by iguillen on Tue, 06/18/2019 - 11:25
del Pozo MGonzález-, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One. 2011;6(12):e27894. doi:10.1371/journal.pone.0027894.

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing.

Submitted by iguillen on Tue, 06/18/2019 - 11:11
Medina I, De Maria A, Bleda M, et al. VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. Nucleic Acids Res. 2012;40(Web Server issue):W54-8. doi:10.1093/nar/gks572.

Diversification of the expanded teleost-specific toll-like receptor family in Atlantic cod, Gadus morhua.

Submitted by iguillen on Tue, 06/18/2019 - 10:35
Sundaram AYM, Kiron V, Dopazo J, Fernandes JMO. Diversification of the expanded teleost-specific toll-like receptor family in Atlantic cod, Gadus morhua. BMC Evol Biol. 2012;12:256. doi:10.1186/1471-2148-12-256.

The role of the interactome in the maintenance of deleterious variability in human populations.

Submitted by iguillen on Mon, 06/17/2019 - 13:34
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.