<?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%">Cruz, Raquel</style></author><author><style face="normal" font="default" size="100%">Almeida, Silvia Diz-de</style></author><author><style face="normal" font="default" size="100%">Heredia, Miguel López</style></author><author><style face="normal" font="default" size="100%">Quintela, Inés</style></author><author><style face="normal" font="default" size="100%">Ceballos, Francisco C</style></author><author><style face="normal" font="default" size="100%">Pita, Guillermo</style></author><author><style face="normal" font="default" size="100%">Lorenzo-Salazar, José M</style></author><author><style face="normal" font="default" size="100%">González-Montelongo, Rafaela</style></author><author><style face="normal" font="default" size="100%">Gago-Domínguez, Manuela</style></author><author><style face="normal" font="default" size="100%">Porras, Marta Sevilla</style></author><author><style face="normal" font="default" size="100%">Castaño, Jair Antonio Tenorio</style></author><author><style face="normal" font="default" size="100%">Nevado, Julián</style></author><author><style face="normal" font="default" size="100%">Aguado, Jose María</style></author><author><style face="normal" font="default" size="100%">Aguilar, Carlos</style></author><author><style face="normal" font="default" size="100%">Aguilera-Albesa, Sergio</style></author><author><style face="normal" font="default" size="100%">Almadana, Virginia</style></author><author><style face="normal" font="default" size="100%">Almoguera, Berta</style></author><author><style face="normal" font="default" size="100%">Alvarez, Nuria</style></author><author><style face="normal" font="default" size="100%">Andreu-Bernabeu, Álvaro</style></author><author><style face="normal" font="default" size="100%">Arana-Arri, Eunate</style></author><author><style face="normal" font="default" size="100%">Arango, Celso</style></author><author><style face="normal" font="default" size="100%">Arranz, María J</style></author><author><style face="normal" font="default" size="100%">Artiga, Maria-Jesus</style></author><author><style face="normal" font="default" size="100%">Baptista-Rosas, Raúl C</style></author><author><style face="normal" font="default" size="100%">Barreda-Sánchez, María</style></author><author><style face="normal" font="default" size="100%">Belhassen-Garcia, Moncef</style></author><author><style face="normal" font="default" size="100%">Bezerra, Joao F</style></author><author><style face="normal" font="default" size="100%">Bezerra, Marcos A C</style></author><author><style face="normal" font="default" size="100%">Boix-Palop, Lucía</style></author><author><style face="normal" font="default" size="100%">Brión, Maria</style></author><author><style face="normal" font="default" size="100%">Brugada, Ramón</style></author><author><style face="normal" font="default" size="100%">Bustos, Matilde</style></author><author><style face="normal" font="default" size="100%">Calderón, Enrique J</style></author><author><style face="normal" font="default" size="100%">Carbonell, Cristina</style></author><author><style face="normal" font="default" size="100%">Castano, Luis</style></author><author><style face="normal" font="default" size="100%">Castelao, Jose E</style></author><author><style face="normal" font="default" size="100%">Conde-Vicente, Rosa</style></author><author><style face="normal" font="default" size="100%">Cordero-Lorenzana, M Lourdes</style></author><author><style face="normal" font="default" size="100%">Cortes-Sanchez, Jose L</style></author><author><style face="normal" font="default" size="100%">Corton, Marta</style></author><author><style face="normal" font="default" size="100%">Darnaude, M Teresa</style></author><author><style face="normal" font="default" size="100%">De Martino-Rodríguez, Alba</style></author><author><style face="normal" font="default" size="100%">Campo-Pérez, Victor</style></author><author><style face="normal" font="default" size="100%">Bustamante, Aranzazu Diaz</style></author><author><style face="normal" font="default" size="100%">Domínguez-Garrido, Elena</style></author><author><style face="normal" font="default" size="100%">Luchessi, André D</style></author><author><style face="normal" font="default" size="100%">Eirós, Rocío</style></author><author><style face="normal" font="default" size="100%">Sanabria, Gladys Mercedes Estigarribia</style></author><author><style face="normal" font="default" size="100%">Fariñas, María Carmen</style></author><author><style face="normal" font="default" size="100%">Fernández-Robelo, Uxía</style></author><author><style face="normal" font="default" size="100%">Fernández-Rodríguez, Amanda</style></author><author><style face="normal" font="default" size="100%">Fernández-Villa, Tania</style></author><author><style face="normal" font="default" size="100%">Gil-Fournier, Belén</style></author><author><style face="normal" font="default" size="100%">Gómez-Arrue, Javier</style></author><author><style face="normal" font="default" size="100%">Álvarez, Beatriz González</style></author><author><style face="normal" font="default" size="100%">Quirós, Fernan Gonzalez Bernaldo</style></author><author><style face="normal" font="default" size="100%">González-Peñas, Javier</style></author><author><style face="normal" font="default" size="100%">Gutiérrez-Bautista, Juan F</style></author><author><style face="normal" font="default" size="100%">Herrero, María José</style></author><author><style face="normal" font="default" size="100%">Herrero-Gonzalez, Antonio</style></author><author><style face="normal" font="default" size="100%">Jimenez-Sousa, María A</style></author><author><style face="normal" font="default" size="100%">Lattig, María Claudia</style></author><author><style face="normal" font="default" size="100%">Borja, Anabel Liger</style></author><author><style face="normal" font="default" size="100%">Lopez-Rodriguez, Rosario</style></author><author><style face="normal" font="default" size="100%">Mancebo, Esther</style></author><author><style face="normal" font="default" size="100%">Martín-López, Caridad</style></author><author><style face="normal" font="default" size="100%">Martín, Vicente</style></author><author><style face="normal" font="default" size="100%">Martinez-Nieto, Oscar</style></author><author><style face="normal" font="default" size="100%">Martinez-Lopez, Iciar</style></author><author><style face="normal" font="default" size="100%">Martinez-Resendez, Michel F</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Ángel</style></author><author><style face="normal" font="default" size="100%">Mazzeu, Juliana A</style></author><author><style face="normal" font="default" size="100%">Macías, Eleuterio Merayo</style></author><author><style face="normal" font="default" size="100%">Minguez, Pablo</style></author><author><style face="normal" font="default" size="100%">Cuerda, Victor Moreno</style></author><author><style face="normal" font="default" size="100%">Silbiger, Vivian N</style></author><author><style face="normal" font="default" size="100%">Oliveira, Silviene F</style></author><author><style face="normal" font="default" size="100%">Ortega-Paino, Eva</style></author><author><style face="normal" font="default" size="100%">Parellada, Mara</style></author><author><style face="normal" font="default" size="100%">Paz-Artal, Estela</style></author><author><style face="normal" font="default" size="100%">Santos, Ney P C</style></author><author><style face="normal" font="default" size="100%">Pérez-Matute, Patricia</style></author><author><style face="normal" font="default" size="100%">Perez, Patricia</style></author><author><style face="normal" font="default" size="100%">Pérez-Tomás, M Elena</style></author><author><style face="normal" font="default" size="100%">Perucho, Teresa</style></author><author><style face="normal" font="default" size="100%">Pinsach-Abuin, Mel Lina</style></author><author><style face="normal" font="default" size="100%">Pompa-Mera, Ericka N</style></author><author><style face="normal" font="default" size="100%">Porras-Hurtado, Gloria L</style></author><author><style face="normal" font="default" size="100%">Pujol, Aurora</style></author><author><style face="normal" font="default" size="100%">León, Soraya Ramiro</style></author><author><style face="normal" font="default" size="100%">Resino, Salvador</style></author><author><style face="normal" font="default" size="100%">Fernandes, Marianne R</style></author><author><style face="normal" font="default" size="100%">Rodríguez-Ruiz, Emilio</style></author><author><style face="normal" font="default" size="100%">Rodriguez-Artalejo, Fernando</style></author><author><style face="normal" font="default" size="100%">Rodriguez-Garcia, José A</style></author><author><style face="normal" font="default" size="100%">Ruiz-Cabello, Francisco</style></author><author><style face="normal" font="default" size="100%">Ruiz-Hornillos, Javier</style></author><author><style face="normal" font="default" size="100%">Ryan, Pablo</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Souto, Juan Carlos</style></author><author><style face="normal" font="default" size="100%">Tamayo, Eduardo</style></author><author><style face="normal" font="default" size="100%">Tamayo-Velasco, Alvaro</style></author><author><style face="normal" font="default" size="100%">Taracido-Fernandez, Juan Carlos</style></author><author><style face="normal" font="default" size="100%">Teper, Alejandro</style></author><author><style face="normal" font="default" size="100%">Torres-Tobar, Lilian</style></author><author><style face="normal" font="default" size="100%">Urioste, Miguel</style></author><author><style face="normal" font="default" size="100%">Valencia-Ramos, Juan</style></author><author><style face="normal" font="default" size="100%">Yáñez, Zuleima</style></author><author><style face="normal" font="default" size="100%">Zarate, Ruth</style></author><author><style face="normal" font="default" size="100%">Nakanishi, Tomoko</style></author><author><style face="normal" font="default" size="100%">Pigazzini, Sara</style></author><author><style face="normal" font="default" size="100%">Degenhardt, Frauke</style></author><author><style face="normal" font="default" size="100%">Butler-Laporte, Guillaume</style></author><author><style face="normal" font="default" size="100%">Maya-Miles, Douglas</style></author><author><style face="normal" font="default" size="100%">Bujanda, Luis</style></author><author><style face="normal" font="default" size="100%">Bouysran, Youssef</style></author><author><style face="normal" font="default" size="100%">Palom, Adriana</style></author><author><style face="normal" font="default" size="100%">Ellinghaus, David</style></author><author><style face="normal" font="default" size="100%">Martínez-Bueno, Manuel</style></author><author><style face="normal" font="default" size="100%">Rolker, Selina</style></author><author><style face="normal" font="default" size="100%">Amitrano, Sara</style></author><author><style face="normal" font="default" size="100%">Roade, Luisa</style></author><author><style face="normal" font="default" size="100%">Fava, Francesca</style></author><author><style face="normal" font="default" size="100%">Spinner, Christoph D</style></author><author><style face="normal" font="default" size="100%">Prati, Daniele</style></author><author><style face="normal" font="default" size="100%">Bernardo, David</style></author><author><style face="normal" font="default" size="100%">García, Federico</style></author><author><style face="normal" font="default" size="100%">Darcis, Gilles</style></author><author><style face="normal" font="default" size="100%">Fernández-Cadenas, Israel</style></author><author><style face="normal" font="default" size="100%">Holter, Jan Cato</style></author><author><style face="normal" font="default" size="100%">Banales, Jesus M</style></author><author><style face="normal" font="default" size="100%">Frithiof, Robert</style></author><author><style face="normal" font="default" size="100%">Duga, Stefano</style></author><author><style face="normal" font="default" size="100%">Asselta, Rosanna</style></author><author><style face="normal" font="default" size="100%">Pereira, Alexandre C</style></author><author><style face="normal" font="default" size="100%">Romero-Gómez, Manuel</style></author><author><style face="normal" font="default" size="100%">Nafría-Jiménez, Beatriz</style></author><author><style face="normal" font="default" size="100%">Hov, Johannes R</style></author><author><style face="normal" font="default" size="100%">Migeotte, Isabelle</style></author><author><style face="normal" font="default" size="100%">Renieri, Alessandra</style></author><author><style face="normal" font="default" size="100%">Planas, Anna M</style></author><author><style face="normal" font="default" size="100%">Ludwig, Kerstin U</style></author><author><style face="normal" font="default" size="100%">Buti, Maria</style></author><author><style face="normal" font="default" size="100%">Rahmouni, Souad</style></author><author><style face="normal" font="default" size="100%">Alarcón-Riquelme, Marta E</style></author><author><style face="normal" font="default" size="100%">Schulte, Eva C</style></author><author><style face="normal" font="default" size="100%">Franke, Andre</style></author><author><style face="normal" font="default" size="100%">Karlsen, Tom H</style></author><author><style face="normal" font="default" size="100%">Valenti, Luca</style></author><author><style face="normal" font="default" size="100%">Zeberg, Hugo</style></author><author><style face="normal" font="default" size="100%">Richards, Brent</style></author><author><style face="normal" font="default" size="100%">Ganna, Andrea</style></author><author><style face="normal" font="default" size="100%">Boada, Mercè</style></author><author><style face="normal" font="default" size="100%">Rojas, Itziar</style></author><author><style face="normal" font="default" size="100%">Ruiz, Agustín</style></author><author><style face="normal" font="default" size="100%">Sánchez, Pascual</style></author><author><style face="normal" font="default" size="100%">Real, Luis Miguel</style></author><author><style face="normal" font="default" size="100%">Guillén-Navarro, Encarna</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author><author><style face="normal" font="default" size="100%">González-Neira, Anna</style></author><author><style face="normal" font="default" size="100%">Riancho, José A</style></author><author><style face="normal" font="default" size="100%">Rojas-Martinez, Augusto</style></author><author><style face="normal" font="default" size="100%">Flores, Carlos</style></author><author><style face="normal" font="default" size="100%">Lapunzina, Pablo</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">SCOURGE Cohort Group</style></author><author><style face="normal" font="default" size="100%">HOSTAGE Cohort Group</style></author><author><style face="normal" font="default" size="100%">GRA@CE Cohort Group</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel genes and sex differences in COVID-19 severity.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2022</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2022 Jun 16</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Here we describe the results of a genome-wide study conducted in 11 939 COVID-19 positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (p &lt; 5x10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (p = 1.3x10-22 and p = 8.1x10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (p = 4.4x10-8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (p = 2.7x10-8) and ARHGAP33 (p = 1.3x10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, p = 4.1x10-8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (&lt;60 or ≥ 60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.&lt;/p&gt;</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%">Peña-Chilet, Maria</style></author><author><style face="normal" font="default" size="100%">Roldán, Gema</style></author><author><style face="normal" font="default" size="100%">Perez-Florido, Javier</style></author><author><style face="normal" font="default" size="100%">Ortuno, Francisco M</style></author><author><style face="normal" font="default" size="100%">Carmona, Rosario</style></author><author><style face="normal" font="default" size="100%">Aquino, Virginia</style></author><author><style face="normal" font="default" size="100%">López-López, Daniel</style></author><author><style face="normal" font="default" size="100%">Loucera, Carlos</style></author><author><style face="normal" font="default" size="100%">Fernandez-Rueda, Jose L</style></author><author><style face="normal" font="default" size="100%">Gallego, Asunción</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">González-Neira, Anna</style></author><author><style face="normal" font="default" size="100%">Pita, Guillermo</style></author><author><style face="normal" font="default" size="100%">Núñez-Torres, Rocío</style></author><author><style face="normal" font="default" size="100%">Santoyo-López, Javier</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author><author><style face="normal" font="default" size="100%">Minguez, Pablo</style></author><author><style face="normal" font="default" size="100%">Avila-Fernandez, Almudena</style></author><author><style face="normal" font="default" size="100%">Corton, Marta</style></author><author><style face="normal" font="default" size="100%">Moreno-Pelayo, Miguel Ángel</style></author><author><style face="normal" font="default" size="100%">Morin, Matías</style></author><author><style face="normal" font="default" size="100%">Gallego-Martinez, Alvaro</style></author><author><style face="normal" font="default" size="100%">Lopez-Escamez, Jose A</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author><author><style face="normal" font="default" size="100%">Amigo, Jorge</style></author><author><style face="normal" font="default" size="100%">Salgado-Garrido, Josefa</style></author><author><style face="normal" font="default" size="100%">Pasalodos-Sanchez, Sara</style></author><author><style face="normal" font="default" size="100%">Morte, Beatriz</style></author><author><style face="normal" font="default" size="100%">Carracedo, Ángel</style></author><author><style face="normal" font="default" size="100%">Alonso, Ángel</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Spanish Exome Crowdsourcing Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">CSVS, a crowdsourcing database of the Spanish population genetic variability.</style></title><secondary-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Crowdsourcing</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Population</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Internet</style></keyword><keyword><style  face="normal" font="default" size="100%">Precision Medicine</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword><keyword><style  face="normal" font="default" size="100%">Spain</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021 01 08</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">49</style></volume><pages><style face="normal" font="default" size="100%">D1130-D1137</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated in a collaborative crowdsourcing effort collecting sequencing data produced by local genomic projects and for other purposes. Sequences have been grouped by ICD10 upper categories. A web interface allows querying the database removing one or more ICD10 categories. In this way, aggregated counts of allele frequencies of the pseudo-control Spanish population can be obtained for diseases belonging to the category removed. Interestingly, in addition to pseudo-control studies, some population studies can be made, as, for example, prevalence of pharmacogenomic variants, etc. In addition, this genomic data has been used to define the first Spanish Genome Reference Panel (SGRP1.0) for imputation. This is the first local repository of variability entirely produced by a crowdsourcing effort and constitutes an example for future initiatives to characterize local variability worldwide. CSVS is also part of the GA4GH Beacon network. CSVS can be accessed at: http://csvs.babelomics.org/.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">D1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32990755?dopt=Abstract</style></custom1></record></records></xml>