<?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%">Méndez-Vidal, Cristina</style></author><author><style face="normal" font="default" size="100%">Bravo-Gil, Nereida</style></author><author><style face="normal" font="default" size="100%">Perez-Florido, Javier</style></author><author><style face="normal" font="default" size="100%">Marcos-Luque, Irene</style></author><author><style face="normal" font="default" size="100%">Fernández, Raquel M</style></author><author><style face="normal" font="default" size="100%">Fernandez-Rueda, Jose Luis</style></author><author><style face="normal" font="default" size="100%">González-del Pozo, María</style></author><author><style face="normal" font="default" size="100%">Martín-Sánchez, Marta</style></author><author><style face="normal" font="default" size="100%">Fernández-Suárez, Elena</style></author><author><style face="normal" font="default" size="100%">Mena, Marcela</style></author><author><style face="normal" font="default" size="100%">Carmona, Rosario</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</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></authors></contributors><titles><title><style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style></title><secondary-title><style face="normal" font="default" size="100%">J Transl Med</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J Transl Med</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Algorithms</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Nucleotide Sequencing</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Precision Medicine</style></keyword><keyword><style  face="normal" font="default" size="100%">rare diseases</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2025</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2025 Jan 20</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">23</style></volume><pages><style face="normal" font="default" size="100%">86</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization. This strategy was applied to 6500 individuals including 6267 index patients and 233 NGS-based carrier screenings.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Causative variants were identified in 2061 index patients (average 32.9%, ranging from 12 to 62% by condition). Also, 131 autosomal-recessive cases could be partially genetically diagnosed. These results led to over 5000 additional studies including carrier, prenatal and preimplantational tests or pharmacological and gene therapy treatments.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;This strategy has shown promising improvements in the diagnostic rate, facilitating timely diagnosis and gradually expanding our services portfolio for rare diseases. The steps taken towards the integration of clinical and genomic data are opening new possibilities for conducting both retrospective and prospective healthcare studies. Overall, this study represents a major milestone in the ongoing efforts to improve our understanding and clinical management of rare diseases, a crucial area of medical research and care.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue></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%">Casimiro-Soriguer, Carlos S</style></author><author><style face="normal" font="default" size="100%">Perez-Florido, Javier</style></author><author><style face="normal" font="default" size="100%">Robles, Enrique A</style></author><author><style face="normal" font="default" size="100%">Lara, María</style></author><author><style face="normal" font="default" size="100%">Aguado, Andrea</style></author><author><style face="normal" font="default" size="100%">Rodríguez Iglesias, Manuel A</style></author><author><style face="normal" font="default" size="100%">Lepe, Jose A</style></author><author><style face="normal" font="default" size="100%">García, Federico</style></author><author><style face="normal" font="default" size="100%">Pérez-Alegre, Mónica</style></author><author><style face="normal" font="default" size="100%">Andújar, Eloísa</style></author><author><style face="normal" font="default" size="100%">Jiménez, Victoria E</style></author><author><style face="normal" font="default" size="100%">Camino, Lola P</style></author><author><style face="normal" font="default" size="100%">Loruso, Nicola</style></author><author><style face="normal" font="default" size="100%">Ameyugo, Ulises</style></author><author><style face="normal" font="default" size="100%">Vazquez, Isabel María</style></author><author><style face="normal" font="default" size="100%">Lozano, Carlota M</style></author><author><style face="normal" font="default" size="100%">Chaves, J Alberto</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%">The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic.</style></title><secondary-title><style face="normal" font="default" size="100%">Sci Rep</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Sci Rep</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Drug Resistance, Bacterial</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Bacterial</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%">One Health</style></keyword><keyword><style  face="normal" font="default" size="100%">Virulence Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Genome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2024</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2024 Aug 19</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">14</style></volume><pages><style face="normal" font="default" size="100%">19200</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 One Health approach, recognizing the interconnectedness of human, animal, and environmental health, has gained significance amid emerging zoonotic diseases and antibiotic resistance concerns. This paper aims to demonstrate the utility of a collaborative tool, the SIEGA, for monitoring infectious diseases across domains, fostering a comprehensive understanding of disease dynamics and risk factors, highlighting the pivotal role of One Health surveillance systems. Raw whole-genome sequencing is processed through different species-specific open software that additionally reports the presence of genes associated to anti-microbial resistances and virulence. The SIEGA application is a Laboratory Information Management System, that allows customizing reports, detect transmission chains, and promptly alert on alarming genetic similarities. The SIEGA initiative has successfully accumulated a comprehensive collection of more than 1900 bacterial genomes, including Salmonella enterica, Listeria monocytogenes, Campylobacter jejuni, Escherichia coli, Yersinia enterocolitica and Legionella pneumophila, showcasing its potential in monitoring pathogen transmission, resistance patterns, and virulence factors. SIEGA enables customizable reports and prompt detection of transmission chains, highlighting its contribution to enhancing vigilance and response capabilities. Here we show the potential of genomics in One Health surveillance when supported by an appropriate bioinformatic tool. By facilitating precise disease control strategies and antimicrobial resistance management, SIEGA enhances global health security and reduces the burden of infectious diseases. The integration of health data from humans, animals, and the environment, coupled with advanced genomics, underscores the importance of a holistic One Health approach in mitigating health threats.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue></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>