• Regulatory de novo mutations underlying intellectual disability

  Vas, Matías G. de; Boulet, Fanny; Joshi, Shweta S.; Garstang, Myles G.; Khan, Tahir N.; Atla, Goutham; Parry, David; Moore, David; Cebola, Inês; Zhang, Shuchen; Cui, Wei, 1970-; Lampe, Anne K.; Lam, Wayne W.; Genomics England Research Consortium; Ferrer, Jorge; Pradeepa, Madapura M.; Atanur, Santosh S. (Life Science Alliance, 2023)

  The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory ...
• TFIIIC as a potential epigenetic modulator of histone acetylation in human stem cells

  Vezzoli, Marco; De Llobet, Lara Isabel; Di Vona, Chiara, 1981-; Morselli, Marco; Montanini, Barbara; Luna Gargantilla, Susana de la; Teichmann, Martin; Dieci, Giorgio; Ferrari, Roberto (MDPI, 2023)

  Regulation of histone acetylation dictates patterns of gene expression and hence cell identity. Due to their clinical relevance in cancer biology, understanding how human embryonic stem cells (hESCs) regulate their genomic ...
• Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis

  Muntané, Gerard; Vázquez-Bourgon, Javier; Sada, Ester; Martorell, Lourdes; Papiol, Sergi; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Crespo-Facorro, Benedicto; Vilella, Elisabet (Cambridge University Press, 2023)

  Background: Individuals with a first episode of psychosis (FEP) show rapid weight gain during the first months of treatment, which is associated with a reduction in general physical health. Although genetics is assumed to ...
• Using protein-per-mRNA differences among human tissues in codon optimization

  Hernandez-Alias, Xavier; Benisty, Hannah, 1986-; Radusky, Leandro; Serrano Pubull, Luis, 1982-; Schaefer, Martin H. (BioMed Central, 2023)

  Background: Codon usage and nucleotide composition of coding sequences have profound effects on protein expression. However, while it is recognized that different tissues have distinct tRNA profiles and codon usages in ...
• Disruption of stem cell niche-confined R-spondin 3 expression leads to impaired hematopoiesis

  Kurtova, Antonina V.; Velten, Lars; Sauvage, Frederic J. de (American Society of Hematology, 2023)

  Self-renewal and differentiation of stem and progenitor cells are tightly regulated to ensure tissue homeostasis. This regulation is enabled both remotely by systemic circulating cues, such as cytokines and hormones, and ...
• APOE-ε4 modulates the association between regional amyloid deposition and cognitive performance in cognitively unimpaired middle-aged individuals

  Brugulat Serrat, Anna, 1986-; Sánchez Benavides, Gonzalo; Cacciaglia, Raffaele; Shekari, Mahnaz; Milà Alomà, Marta; Vilor Tejedor, Natàlia, 1988-; Operto, Grégory; Falcón, Carles; Grau-Rivera, Oriol; Arenaza Urquijo, Eider M.; Minguillón, Carolina; Fauria, Karine; Suárez-Calvet, Marc; Gispert López, Juan Domingo; ALFA Study (Springer, 2023)

  Purpose: To determine whether the APOE-ε4 allele modulates the relationship between regional β-amyloid (Aβ) accumulation and cognitive change in middle-aged cognitively unimpaired (CU) participants. Methods: The 352 CU ...
• FBXW7 tumor suppressor regulation by dualspecificity tyrosine-regulated kinase 2

  Jiménez-Izquierdo, Rafael; Morrugares, Rosario; Suanes-Cobos, Lucía; Correa-Sáez, Alejandro; Garrido-Rodríguez, Martín; Cerero-Tejero, Laura; Khan, Omar M.; Luna, Susana de la; Sancho, Rocío; Calzado, Marco A. (Springer, 2023)

  FBXW7 is a member of the F-box protein family, which functions as the substrate recognition component of the SCF E3 ubiquitin ligase. FBXW7 is a main tumor suppressor due to its ability to control proteasome-mediated ...
• Sensing membrane stresses by protein insertions

  Campelo, Felix; Kozlov, Michael M. (Public Library of Science (PLoS), 2014)

  Protein domains shallowly inserting into the membrane matrix are ubiquitous in peripheral membrane proteins involved in various processes of intracellular membrane shaping and remodeling. It has been suggested that these ...
• Putting hornets on the genomic map

  Favreau, Emeline; Cini, Alessandro; Taylor, Daisy; Câmara Ferreira, Francisco; Bentley, Michael A.; Cappa, Federico; Cervo, Rita; Privman, Eyal; Schneider, Jadesada; Thiéry, Denis; Mashoodh, Rahia; Wyatt, Christopher Douglas Robert, 1988-; Brown, Robert L.; Bodrug-Schepers, Alexandrina; Stralis-Pavese, Nancy; Dohm, Juliane C.; Mead, Daniel; Himmelbauer, Heinz; Guigó Serra, Roderic; Sumner, Seirian (Nature Research, 2023)

  Hornets are the largest of the social wasps, and are important regulators of insect populations in their native ranges. Hornets are also very successful as invasive species, with often devastating economic, ecological and ...
• RNAget: an API to securely retrieve RNA quantifications

  Upchurch, Sean; Palumbo, Emilio; Adams, Jeremy; Bujold, David; Bourque, Guillaume; Nedzel, Jared; Graham, Keenan; Kagda, Meenakshi S.; Assis, Pedro; Hitz, Benjamin; Righi, Emilio; Guigó Serra, Roderic; Wold, Barbara J.; GA4GH RNA-Seq Task Team (Oxford University Press, 2023)

  Large-scale sharing of genomic quantification data requires standardized access interfaces. In this Global Alliance for Genomics and Health project, we developed RNAget, an API for secure access to genomic quantification ...
• 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 B. (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 ...

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