<?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%">Luzón-Toro, Berta</style></author><author><style face="normal" font="default" size="100%">Gui, Hongsheng</style></author><author><style face="normal" font="default" size="100%">Ruiz-Ferrer, Macarena</style></author><author><style face="normal" font="default" size="100%">Sze-Man Tang, Clara</style></author><author><style face="normal" font="default" size="100%">Fernández, Raquel M</style></author><author><style face="normal" font="default" size="100%">Sham, Pak-Chung</style></author><author><style face="normal" font="default" size="100%">Torroglosa, Ana</style></author><author><style face="normal" font="default" size="100%">Kwong-Hang Tam, Paul</style></author><author><style face="normal" font="default" size="100%">Espino-Paisán, Laura</style></author><author><style face="normal" font="default" size="100%">Cherny, Stacey S</style></author><author><style face="normal" font="default" size="100%">Bleda, Marta</style></author><author><style face="normal" font="default" size="100%">Enguix-Riego, María Del Valle</style></author><author><style face="normal" font="default" size="100%">Joaquín Dopazo</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author><author><style face="normal" font="default" size="100%">Garcia-Barceló, Maria-Mercè</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.</style></title><secondary-title><style face="normal" font="default" size="100%">Scientific reports</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">babelomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Hirschprung</style></keyword><keyword><style  face="normal" font="default" size="100%">NGS</style></keyword><keyword><style  face="normal" font="default" size="100%">prioritization</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.nature.com/articles/srep16473</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">5</style></volume><pages><style face="normal" font="default" size="100%">16473</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Hirschsprung disease (HSCR; OMIM 142623) is a developmental disorder characterized by aganglionosis along variable lengths of the distal gastrointestinal tract, which results in intestinal obstruction. Interactions among known HSCR genes and/or unknown disease susceptibility loci lead to variable severity of phenotype. Neither linkage nor genome-wide association studies have efficiently contributed to completely dissect the genetic pathways underlying this complex genetic disorder. We have performed whole exome sequencing of 16 HSCR patients from 8 unrelated families with SOLID platform. Variants shared by affected relatives were validated by Sanger sequencing. We searched for genes recurrently mutated across families. Only variations in the FAT3 gene were significantly enriched in five families. Within-family analysis identified compound heterozygotes for AHNAK and several genes (N = 23) with heterozygous variants that co-segregated with the phenotype. Network and pathway analyses facilitated the discovery of polygenic inheritance involving FAT3, HSCR known genes and their gene partners. Altogether, our approach has facilitated the detection of more than one damaging variant in biologically plausible genes that could jointly contribute to the phenotype. Our data may contribute to the understanding of the complex interactions that occur during enteric nervous system development and the etiopathology of familial HSCR.</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%">Tenorio, Jair</style></author><author><style face="normal" font="default" size="100%">Mansilla, Alicia</style></author><author><style face="normal" font="default" size="100%">Valencia, María</style></author><author><style face="normal" font="default" size="100%">Martínez-Glez, Víctor</style></author><author><style face="normal" font="default" size="100%">Romanelli, Valeria</style></author><author><style face="normal" font="default" size="100%">Arias, Pedro</style></author><author><style face="normal" font="default" size="100%">Castrejón, Nerea</style></author><author><style face="normal" font="default" size="100%">Poletta, Fernando</style></author><author><style face="normal" font="default" size="100%">Guillén-Navarro, Encarna</style></author><author><style face="normal" font="default" size="100%">Gordo, Gema</style></author><author><style face="normal" font="default" size="100%">Mansilla, Elena</style></author><author><style face="normal" font="default" size="100%">García-Santiago, Fé</style></author><author><style face="normal" font="default" size="100%">González-Casado, Isabel</style></author><author><style face="normal" font="default" size="100%">Vallespín, Elena</style></author><author><style face="normal" font="default" size="100%">Palomares, María</style></author><author><style face="normal" font="default" size="100%">Mori, María A</style></author><author><style face="normal" font="default" size="100%">Santos-Simarro, Fernando</style></author><author><style face="normal" font="default" size="100%">García-Miñaur, Sixto</style></author><author><style face="normal" font="default" size="100%">Fernández, Luis</style></author><author><style face="normal" font="default" size="100%">Mena, Rocío</style></author><author><style face="normal" font="default" size="100%">Benito-Sanz, Sara</style></author><author><style face="normal" font="default" size="100%">Del Pozo, Angela</style></author><author><style face="normal" font="default" size="100%">Silla, Juan Carlos</style></author><author><style face="normal" font="default" size="100%">Ibañez, Kristina</style></author><author><style face="normal" font="default" size="100%">López-Granados, Eduardo</style></author><author><style face="normal" font="default" size="100%">Martín-Trujillo, Alex</style></author><author><style face="normal" font="default" size="100%">Montaner, David</style></author><author><style face="normal" font="default" size="100%">Heath, Karen E</style></author><author><style face="normal" font="default" size="100%">Campos-Barros, Angel</style></author><author><style face="normal" font="default" size="100%">Joaquín Dopazo</style></author><author><style face="normal" font="default" size="100%">Nevado, Julián</style></author><author><style face="normal" font="default" size="100%">Monk, David</style></author><author><style face="normal" font="default" size="100%">Ruiz-Pérez, Víctor L</style></author><author><style face="normal" font="default" size="100%">Lapunzina, Pablo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">A New Overgrowth Syndrome is Due to Mutations in RNF125.</style></title><secondary-title><style face="normal" font="default" size="100%">Human mutation</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">NGS</style></keyword><keyword><style  face="normal" font="default" size="100%">prioritization</style></keyword><keyword><style  face="normal" font="default" size="100%">Rare Disease</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Sep 5</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://onlinelibrary.wiley.com/doi/10.1002/humu.22689/abstract</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">35</style></volume><pages><style face="normal" font="default" size="100%">1436–1441</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of 270 families from the Spanish Overgrowth Syndrome Registry with no known overgrowth syndrome. We identified one de novo deletion and three missense mutations in RNF125 in six patients from 4 families with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycaemia and inflammatory diseases resembling Sjögren syndrome. RNF125 encodes an E3 ubiquitin ligase and is a novel gene of OGS. Our studies of the RNF125 pathway point to upregulation of RIG-I-IPS1-MDA5 and/or disruption of the PI3K-AKT and interferon signaling pathways as the putative final effectors. This article is protected by copyright. All rights reserved.</style></abstract></record></records></xml>