<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Joaquín Dopazo</style></author><author><style face="normal" font="default" size="100%">Amadoz, Alicia</style></author><author><style face="normal" font="default" size="100%">Bleda, Marta</style></author><author><style face="normal" font="default" size="100%">García-Alonso, Luz</style></author><author><style face="normal" font="default" size="100%">Alemán, Alejandro</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Rodriguez, Juan A</style></author><author><style face="normal" font="default" size="100%">Daub, Josephine T</style></author><author><style face="normal" font="default" size="100%">Muntané, Gerard</style></author><author><style face="normal" font="default" size="100%">Antonio Rueda</style></author><author><style face="normal" font="default" size="100%">Vela-Boza, Alicia</style></author><author><style face="normal" font="default" size="100%">López-Domingo, Francisco J</style></author><author><style face="normal" font="default" size="100%">Florido, Javier P</style></author><author><style face="normal" font="default" size="100%">Arce, Pablo</style></author><author><style face="normal" font="default" size="100%">Ruiz-Ferrer, Macarena</style></author><author><style face="normal" font="default" size="100%">Méndez-Vidal, Cristina</style></author><author><style face="normal" font="default" size="100%">Arnold, Todd E</style></author><author><style face="normal" font="default" size="100%">Spleiss, Olivia</style></author><author><style face="normal" font="default" size="100%">Alvarez-Tejado, Miguel</style></author><author><style face="normal" font="default" size="100%">Navarro, Arcadi</style></author><author><style face="normal" font="default" size="100%">Bhattacharya, Shomi S</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author><author><style face="normal" font="default" size="100%">Santoyo-López, Javier</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">267 Spanish exomes reveal population-specific differences in disease-related genetic variation.</style></title><secondary-title><style face="normal" font="default" size="100%">Molecular biology and evolution</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">disease</style></keyword><keyword><style  face="normal" font="default" size="100%">NGS</style></keyword><keyword><style  face="normal" font="default" size="100%">polymorphisms</style></keyword><keyword><style  face="normal" font="default" size="100%">Population genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">prioritization</style></keyword><keyword><style  face="normal" font="default" size="100%">SNP</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2016</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2016 Jan 13</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">https://mbe.oxfordjournals.org/content/early/2016/02/17/molbev.msw005.full</style></url></web-urls></urls><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalogue of local variability motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. Like in other studies, a considerable number of rare variants were found (almost one third of the described variants). There were also relevant differences in allelic frequencies in polymorphic variants, including about 10,000 polymorphisms private to the Spanish population. The allelic frequencies of variants conferring susceptibility to complex diseases (including cancer, schizophrenia, Alzheimer disease, type 2 diabetes and other pathologies) were overall similar to those of other populations. However, the trend is the opposite for variants linked to Mendelian and rare diseases (including several retinal degenerative dystrophies and cardiomyopathies) that show marked frequency differences between populations. Interestingly, a correspondence between differences in allelic frequencies and disease prevalence was found, highlighting the relevance of frequency differences in disease risk. These differences are also observed in variants that disrupt known drug binding sites, suggesting an important role for local variability in population-specific drug resistances or adverse effects. We have made the Spanish population variant server web page that contains population frequency information for the complete list of 170,888 variant positions we found publicly available (http://spv.babelomics.org/), We show that it if fundamental to determine population-specific variant frequencies in order to distinguish real disease associations from population-specific polymorphisms.</style></abstract></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Carbonell, José</style></author><author><style face="normal" font="default" size="100%">Alloza, Eva</style></author><author><style face="normal" font="default" size="100%">Arce, Pablo</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author><author><style face="normal" font="default" size="100%">Santoyo, Javier</style></author><author><style face="normal" font="default" size="100%">Ruiz-Ferrer, Macarena</style></author><author><style face="normal" font="default" size="100%">Medina, Ignacio</style></author><author><style face="normal" font="default" size="100%">Jiménez-Almazán, Jorge</style></author><author><style face="normal" font="default" size="100%">Méndez-Vidal, Cristina</style></author><author><style face="normal" font="default" size="100%">González-del Pozo, María</style></author><author><style face="normal" font="default" size="100%">Vela, Alicia</style></author><author><style face="normal" font="default" size="100%">Bhattacharya, Shomi S</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">A map of human microRNA variation uncovers unexpectedly high levels of variability.</style></title><secondary-title><style face="normal" font="default" size="100%">Genome medicine</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">NGS</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Aug 20</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://genomemedicine.com/content/4/8/62/abstract</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">4</style></volume><pages><style face="normal" font="default" size="100%">62</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">ABSTRACT: BACKGROUND: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few years, these regulatory elements have been shown to be involved in an increasing number and range of diseases. Consequently, the compilation of a comprehensive map of natural variability in healthy population seems an obvious requirement for future research on miRNA-related pathologies. METHODS: Data on 14 populations from the 1000 Genomes Project were analysed, along with new data extracted from 60 exomes of healthy individuals from a southern Spain population, sequenced in the context of the Medical Genome Project, to derive an accurate map of miRNA variability. RESULTS: Despite the common belief that miRNAs are highly conserved elements, analysis of the sequences of the 1,152 individuals indicated that the observed level of variability is double what was expected. A total of 527 variants were found. Among these, 45 variants affected the recognition region of the corresponding miRNA and were found in 43 different miRNAs, 26 of which are known to be involved in 57 diseases. Different parts of the mature structure of the miRNA were affected to different degrees by variants, which suggests the existence of a selective pressure related to the relative functional impact of the change. Moreover, 41 variants showed a significant deviation from the Hardy-Weinberg equilibrium, which supports the existence of a selective process against some alleles. The average number of variants per individual in miRNAs was 28. CONCLUSIONS: Despite an expectation that miRNAs would be highly conserved genomic elements, our study reports a level of variability comparable to that observed for coding genes.</style></abstract></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Barragán, Isabel</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author><author><style face="normal" font="default" size="100%">Pieras, Juan Ignacio</style></author><author><style face="normal" font="default" size="100%">González-del Pozo, María</style></author><author><style face="normal" font="default" size="100%">Santoyo, Javier</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author><author><style face="normal" font="default" size="100%">Baiget, Montserrat</style></author><author><style face="normal" font="default" size="100%">Millán, José M</style></author><author><style face="normal" font="default" size="100%">Mena, Marcela</style></author><author><style face="normal" font="default" size="100%">Abd El-Aziz, Mai M</style></author><author><style face="normal" font="default" size="100%">Audo, Isabelle</style></author><author><style face="normal" font="default" size="100%">Zeitz, Christina</style></author><author><style face="normal" font="default" size="100%">Littink, Karin W</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Bhattacharya, Shomi S</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mutat</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum Mutat</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Amino Acid Sequence</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Mutational Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Drosophila Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Evolution, Molecular</style></keyword><keyword><style  face="normal" font="default" size="100%">Eye Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes, Recessive</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Molecular Sequence Data</style></keyword><keyword><style  face="normal" font="default" size="100%">mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Structure, Tertiary</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinitis pigmentosa</style></keyword><keyword><style  face="normal" font="default" size="100%">Spain</style></keyword><keyword><style  face="normal" font="default" size="100%">Structural Homology, Protein</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">31</style></volume><pages><style face="normal" font="default" size="100%">E1772-800</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene(EYS) encoding an ortholog of Drosophila space maker (spam) as a commonly mutated gene in autosomal recessive RP. In the present study, we report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28)are possibly pathogenic, whereas 39.3% (11/28) are SNPs. In addition, we have detected 3 pathogenic changes previously reported in other populations. We are also presenting the characterisation of EYS homologues in different species, and a detailed analysis of the EYS domains, with the identification of an interesting novel feature: a putative coiled-coil domain.Majority of the mutations in the arRP patients have been found within the domain structures of EYS. The minimum observed prevalence of distinct EYS mutations in our group of patients is of 15.9% (15/94), confirming a major involvement of EYS in the pathogenesis of arRP in the Spanish population. Along with the detection of three recurrent mutations in Caucasian population, our hypothesis of EYS being the first prevalent gene in arRP has been reinforced in the present study.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">11</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/21069908?dopt=Abstract</style></custom1></record></records></xml>