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Polymorphism, Single Nucleotide

Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs).

Submitted by jdopazo on Fri, 10/11/2024 - 17:05
Moura DS, López DLópez, di Lernia D, et al. Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). J Med Genet. 2024;61(10):927-934. doi:10.1136/jmg-2024-110109.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Submitted by rgarcia on Mon, 03/23/2020 - 17:02
Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.

Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals.

Submitted by iguillen on Fri, 07/05/2019 - 14:34
Díez-Fuertes F, De La Torre-Tarazona HE, Calonge E, et al. Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals. Clin Microbiol Infect. 2020;26(1):107-114. doi:10.1016/j.cmi.2019.05.015.

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.

Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.

Submitted by iguillen on Thu, 07/04/2019 - 11:54
Reumers J, Conde L, Medina I, et al. Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. Nucleic Acids Res. 2008;36(Database issue):D825-9. doi:10.1093/nar/gkm979.

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.

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.