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Genome-Wide Association Study

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.

Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.

Submitted by iguillen on Tue, 06/18/2019 - 13:11
Bonifaci N, Górski B, Masojć B, et al. Exploring the link between germline and somatic genetic alterations in breast carcinogenesis. PLoS One. 2010;5(11):e14078. doi:10.1371/journal.pone.0014078.

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.

Submitted by iguillen on Tue, 06/18/2019 - 10:38
Fernández RMa, Bleda M, Núñez-Torres R, et al. Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis. 2012;7:103. doi:10.1186/1750-1172-7-103.

Discovering the hidden sub-network component in a ranked list of genes or proteins derived from genomic experiments.

Submitted by iguillen on Tue, 06/18/2019 - 10:35
García-Alonso L, Alonso R, Vidal E, et al. Discovering the hidden sub-network component in a ranked list of genes or proteins derived from genomic experiments. Nucleic Acids Res. 2012;40(20):e158. doi:10.1093/nar/gks699.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Submitted by iguillen on Tue, 06/11/2019 - 10:26
Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Submitted by iguillen on Tue, 06/11/2019 - 10:22
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, et al. Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Gene. 2015;571(1):52-7. doi:10.1016/j.gene.2015.06.039.