Alleles

Evaluation of a combined detection of SARS-CoV-2 and its variants using real-time allele-specific PCR strategy: an advantage for clinical practice.

Chaves-Blanco L, de Salazar A, Fuentes A, et al. Evaluation of a combined detection of SARS-CoV-2 and its variants using real-time allele-specific PCR strategy: an advantage for clinical practice. Epidemiol Infect. 2023;151:e201. doi:10.1017/S095026882300184X.

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

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.

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

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.

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.