• Standards of NGS data sharing and analysis in Ataxias: recommendations by the NGS Working Group of the Ataxia Global Initiative

  Beijer, Danique; Fogel, Brent L.; Beltran, Sergi; Danzi, Matt C.; Németh, Andrea H.; Züchner, Stephan; Synofzik, Matthis; AGI Ataxia NGS genomics, platforms Working Group (Springer, 2023)

  The Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform to systematically enhance trial-readiness in degenerative ataxias. The next-generation sequencing (NGS) working group of the AGI aims ...
• Unravelling inclusion body myositis using a patient‐derived fibroblast model

  Cantó-Santos, Judith; Valls-Roca, Laura; Tobías, Ester; García-García, Francesc Josep; Guitart-Mampel, Mariona; Esteve-Codina, Anna; Martín-Mur, Beatriz; Casado, Mercedes; Artuch, Rafael; Solsona-Vilarrasa, Estel; Fernandez-Checa, José Carlos; García-Ruiz, Carmen; Rentero, Carles; Enrich, Carlos; Moreno-Lozano, Pedro J.; Milisenda, José César; Cardellach, Francesc; Grau-Junyent, Josep M.; Garrabou, Glòria (Wiley, 2023)

  Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology. ...
• The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models

  Rozowsky, Joel; Borsari, Beatrice, 1992-; Guigó Serra, Roderic; Gerstein, Mark (Elsevier, 2023)

  Understanding how genetic variants impact molecular phenotypes is a key goal of functional genomics, currently hindered by reliance on a single haploid reference genome. Here, we present the EN-TEx resource of 1,635 ...
• Arctic-adapted dogs emerged at the Pleistocene-Holocene transition

  Sinding, Mikkel Holger S.; Kuderna, Lukas F.K.; Marquès i Bonet, Tomàs, 1975-; Gilbert, M Thomas (American Association for the Advancement of Science (AAAS), 2020)

  Although sled dogs are one of the most specialized groups of dogs, their origin and evolution has received much less attention than many other dog groups. We applied a genomic approach to investigate their spatiotemporal ...
• Enamel proteome shows that Gigantopithecus was an early diverging pongine

  Welker, Frido; Ramos-Madrigal, Jazmín; Kuhlwilm, Martin; Liao, Wei; Gutenbrunner, Petra; de Manuel, Marc; Samodova, Diana; Mackie, Meaghan; Allentoft, Morten E.; Bacon, Anne-Marie; Collins, Matthew J.; Cox, Jürgen; Lalueza Fox, Carles, 1965-; Olsen, Jesper V.; Demeter, Fabrice; Wang, Wei; Marquès i Bonet, Tomàs, 1975-; Cappellini, Enrico (Nature Research, 2019)

  Gigantopithecus blacki was a giant hominid that inhabited densely forested environments of Southeast Asia during the Pleistocene epoch1. Its evolutionary relationships to other great ape species, and the divergence of these ...
• Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes

  Miguel Escalada, Irene; Bonàs-Guarch, Silvia; Mendieta Esteban, Julen, 1992-; Atla, Goutham; Farabella, Irene; Morgan, Claire C.; García-Hurtado, Javier; Morán, Ignasi; Torrents, David; Mercader Bigas, Josep Maria; Marti-Renom, Marc A.; Ferrer, Jorge (Nature Research, 2019)

  Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clusters or super-enhancers. So far, ...
• Leveraging European infrastructures to access 1 million human genomes by 2022

  Saunders, Gary; Beltran, Sergi; Gut, Ivo Glynne; Navarro i Cuartiellas, Arcadi, 1969-; Rambla de Argila, Jordi; Scollen, Serena (Nature Research, 2019)

  Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the ...
• GA4GH: International policies and standards for data sharing across genomic research and healthcare

  Rehm, Heidi L.; Beltran, Sergi; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Palumbo, Emilio; Rambla de Argila, Jordi; Birney, Ewan (Elsevier, 2021)

  The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. ...
• Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

  Lee, Danyel; COVID Human Genetic Effort; Zhang, Shen-Ying (American Association for the Advancement of Science (AAAS), 2023)

  Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. ...
• A chromosome‐level genome assembly enables the identification of the follicule stimulating hormone receptor as the master sex‐determining gene in the flatfish Solea senegalensis

  de la Herrán, Roberto; Gómez-Garrido, Jèssica; Cruz, Fernando; Alioto, Tyler S; Martínez, Paulino (Wiley, 2023)

  Sex determination (SD) shows huge variation among fish and a high evolutionary rate, as illustrated by the Pleuronectiformes (flatfishes). This order is characterized by its adaptation to demersal life, compact genomes and ...
• Liquidhope: methylome and genomic profiling from very limited quantities of plasma-derived DNA

  Trinidad, Eva María; Vidal, Enrique; Coronado, Esther; Esteve-Codina, Anna; Castel, Victoria; Cañete, Adela; Gut, Marta; Heath, Simon; Font de Mora, Jaime (Oxford University Press, 2023)

  Analysis of the methylome of tumor cell-free deoxyribonucleic acid (DNA; cfDNA) has emerged as a powerful non-invasive technique for cancer subtyping and prognosis. However, its application is frequently hampered by the ...
• Effects of microtubule length and crowding on active microtubule network organization

  Chew, Wei-Xiang; Henkin, Gil; Nédélec, François; Surrey, Thomas (Elsevier, 2023)

  Active filament networks can organize into various dynamic architectures driven by cross-linking motors. Densities and kinetic properties of motors and microtubules have been shown previously to determine active microtubule ...
• RBD-Based ELISA and luminex predict Anti-SARS-CoV-2 surrogate-neutralizing activity in two longitudinal cohorts of German and Spanish health care workers

  Aguilar, Ruth; Vidal, Marta; Rubio, Rocío; Jiménez, Alfons; Carolis, Carlo; Mayor, Alfredo; Izquierdo, Luis; Garcia Basteiro, Alberto L.; Moncunill, Gemma; Dobaño, Carlota; Gerhard, Markus (American Society for Microbiology, 2023)

  The ability of antibodies to neutralize severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an important correlate of protection. For routine evaluation of protection, however, a simple and cost-efficient ...
• A community-based participatory framework to co-develop Patient Education Materials (PEMs) for rare diseases: A model transferable across diseases

  Falcão, Marta; Allocca, Mariateresa; Rodrigues, Ana Sofia; Granjo, Pedro; Francisco, Rita; Pascoal, Carlota; Rossi, Maria Grazia; Marques-da-Silva, Dorinda; Magrinho, Salvador C. M.; Jaeken, Jaak; Castro, Larisa Aragon; Freitas, Cláudia de; Videira, Paula A.; Andrés-Aguayo, Luísa de; Ferreira, Vanessa Miriam dos Reis (MDPI, 2023)

  At least 50% of chronic disease patients don't follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help ...
• The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees

  Fibla, Joan; Maceda Porto, Iago, 1986-; Laplana, Marina; Guerrero, Montserrat; Martín Álvarez, Miguel; Burgueño, Jesús; Camps, Agustí; Fàbrega, Jordi; Felisart, Josefina; Grané, Joan; Remón, José Luis; Serra, Jordi; Moral, Pedro; Lao Grueso, Oscar, 1976- (Frontiers, 2023)

  The genetic variation of the European population at a macro-geographic scale follows genetic gradients which reflect main migration events. However, less is known about factors affecting mating patterns at a micro-geographic ...
• Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

  Corvò, Alberto; Matalonga, Leslie; Laurie, Steven, 1973-; Picó-Amador, Daniel; Fernández Callejo, Marcos; Paramonov, Ida; Gut, Ivo Glynne; Piscia, Davide; Beltran, Sergi (Elsevier, 2023)

  The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation ...
• Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories

  Bentley, Blair P.; Pawar, Harvinder; Kuhlwilm, Martin; Marquès i Bonet, Tomàs, 1975-; Komoroske, Lisa M. (National Academy of Sciences, 2023)

  Sea turtles represent an ancient lineage of marine vertebrates that evolved from terrestrial ancestors over 100 Mya. The genomic basis of the unique physiological and ecological traits enabling these species to thrive in ...
• Day-night and seasonal variation of human gene expression across tissues

  Wucher, Valentin; Sodaei, Reza, 1988-; Amador, Raziel; Irimia, Manuel; Guigó Serra, Roderic (Public Library of Science (PLoS), 2023)

  Circadian and circannual cycles trigger physiological changes whose reflection on human transcriptomes remains largely uncharted. We used the time and season of death of 932 individuals from GTEx to jointly investigate ...
• Global analysis of the association between pig muscle fatty acid composition and gene expression using RNA-Seq

  Valdés-Hernández, Jesús; Ramayo-Caldas, Yuliaxis; Passols, Magí; Sebastià, Cristina; Criado-Mesas, Lourdes; Crespo-Piazuelo, Daniel; Esteve-Codina, Anna; Castelló, Anna; Sánchez, Armand; Folch, Josep M. (Nature Research, 2023)

  Fatty acids (FAs) play an essential role as mediators of cell signaling and signal transduction, affecting metabolic homeostasis and determining meat quality in pigs. However, FAs are transformed by the action of several ...
• High ambient temperature impacts on flowering time in Brassica napus through both H2A.Z-dependent and independent mechanisms

  Abelenda, José A.; Trabanco, Noemí; Olmo, Iván del; Pozas, Jenifer; Martín-Trillo, María del Mar; Gómez Garrido, Jèssica; Esteve-Codina, Anna; Pernas, Mónica; Jarillo, José A.; Piñeiro, Manuel (Wiley, 2022)

  Knowledge concerning the integration of genetic pathways mediating the responses to environmental cues controlling flowering initiation in crops is scarce. Here, we reveal the diversity in oilseed rape (OSR) flowering ...

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