TitleDateAuthorsDOI
Screening great ape museum specimens for DNA viruses2024-11-30Hämmerle, M; Guellil, M; Trgovec-Greif, L; Cheronet, O; Sawyer, S; Ruiz-Gartzia, I; Lizano, E; Rymbekova, A; Gelabert, P; Bernardi, P; Han, SJ; Rattei, T; Schuenemann, VJ; Marques-Bonet, T; Guschanski, K; Calvignac-Spencer, S; Pinhasi, R; Kuhlwilm, Mhttps://doi.org/10.1038/s41598-024-80780-w
Adaptation in human immune cells residing in tissues at the frontline of infections2024-11-28Salvador-Martínez, I; Murga-Moreno, J; Nieto, JC; Alsinet, C; Enard, D; Heyn, Hhttps://doi.org/10.1038/s41467-024-54603-5
High content of nuclei-free low-quality cells in reference single-cell atlases: a call for more stringent quality control using nuclear fraction2024-11-21Montserrat-Ayuso, T; Esteve-Codina, Ahttps://doi.org/10.1186/s12864-024-11015-5
Integrative single-cell multi-omics of CD19-CARpos and CARneg T cells suggest drivers of immunotherapy response in B cell neoplasias2024-11-19Guerrero-Murillo, M; Rill-Hinarejos, A; Trincado, JL; Bataller, A; Ortiz-Maldonado, V; Benítez-Ribas, D; Español-Rego, M; González-Navarro, E; Martínez-Cibrián, N; Marchese, D; Martín-Martín, L; García-Sancho, AM; Rives, S; Heyn, H; Juan, ME; Urbano-Ispizúa, A; Delgado, J; Orfao, A; Mereu, E; Bueno, C; Menendez, Phttps://doi.org/10.1016/j.xcrm.2024.101803
Deep genetic substructure within bonobos2024-11-18Han, SJ; de Filippo, C; Parra, G; Meneu, JR; Laurent, R; Frandsen, P; Hvilsom, C; Gronau, I; Marques-Bonet, T; Kuhlwilm, M; Andrés, AMhttps://doi.org/10.1016/j.cub.2024.09.043
NFAT5 counters long-term IFN-1 responses in hematopoietic stem cells to preserve reconstitution potential2024-11-12Traveset, L; Encabo, HH; Porqueras, VC; Avalle, S; Esteve-Codina, A; Fornas, O; Aramburu, J; Lopez-Rodriguez, Chttps://doi.org/10.1182/bloodadvances.2023011306
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.2024-10-26Demidov G; Yaldiz B; Garcia-Pelaez J; de Boer E; Schuermans N; Van de Vondel L; Paramonov I; Johansson LF; Musacchia F; Benetti E; Bullich G; Sablauskas K; Beltran S; Gilissen C; Hoischen A; Ossowski S; de Voer R; Lohmann K; Oliveira C; Topf A; Vissers LELM; ; Laurie Shttps://doi.org/10.1038/s41525-024-00436-6
Whole genomes of Amazonian uakari monkeys reveal complex connectivity and fast differentiation driven by high environmental dynamism2024-10-08Hermosilla-Albala, N; Silva, FE; Cuadros-Espinoza, S; Fontsere, C; Valenzuela-Seba, A; Pawar, H; Gut, M; Kelley, JL; Ruibal-Puertas, S; Alentorn-Moron, P; Faella, A; Lizano, E; Farias, I; Hrbek, T; Valsecchi, J; Gut, IG; Rogers, J; Farh, KKH; Kuderna, LFK; Marques-Bonet, T; Boubli, JPhttps://doi.org/10.1038/s42003-024-06901-3
Whole genomes from the extinct Xerces Blue butterfly can help identify declining insect species2024-10-04de Dios Martinez, Toni; Fontsere, Claudia; Renom, Pere; Stiller, Josefin; Llovera, Laia; Uliano-Silva, Marcela; Sanchez-Gracia, Alejandro; Wright, Charlotte; Lizano, Esther; Caballero, Berta; Navarro, Arcadi; Civit, Sergi; Robbins, Robert K; Blaxter, Mark; Marques, Tomas; Vila, Roger; Lalueza-Fox, Carleshttps://doi.org/10.7554/eLife.87928
Genomic adaptation to small population size and saltwater consumption in the critically endangered Cat Ba langur2024-10-02Zhang, Liye; Leonard, Neahga; Passaro, Rick; Luan, Mai Sy; Van Tuyen, Pham; Han, Le Thi Ngoc; Cam, Nguyen Huy; Vogelnest, Larry; Lynch, Michael; Fine, Amanda E; Nga, Nguyen Thi Thanh; Long, Nguyen Van; Rawson, Benjamin M; Behie, Alison; Nguyen, Truong Van; Le, Minh D; Nadler, Tilo; Walter, Lutz; Marques-Bonet, Tomas; Hofreiter, Michael; Li, Ming; Liu, Zhijin; Roos, Christianhttps://doi.org/10.1038/s41467-024-52811-7
Whole-Exome Sequencing of Vulvar Squamous Cell Carcinomas Reveals an Impaired Prognosis in Patients With TP53 Mutations and Concurrent CCND1 Gains2024-10-01Ordi, O; Saco, A; Peñuelas, N; Blanco-Irazuegui, O; del Pino, M; Carreras-Dieguez, N; Marimon, L; Rodrigo-Calvo, MT; Morató, A; Sisuashvili, L; Bustamante, M; Cruells, A; Darecka, K; Vega, N; Alós, S; Trias, I; Fusté, P; Parra, G; Gut, M; Munmany, M; Torné, A; Jares, P; Rakislova, Nhttps://doi.org/10.1016/j.modpat.2024.100574
Clinical and molecular characterization of steatotic liver disease in the setting of immune-mediated inflammatory diseases2024-10-01Garcia-Nieto, Enrique; Rodriguez-Duque, Juan Carlos; Rivas-Rivas, Coral; Iruzubieta, Paula; Garcia, Maria Jose; Rasines, Laura; Alvarez-Cancelo, Ana; Garcia-Blanco, Agustin; Fortea, Jose Ignacio; Puente, Angela; Castro, Beatriz; Cagigal, Maria Luisa; Rueda-Gotor, Javier; Rivero, Montserrat; Armesto, Susana; Gonzalez-Lopez, Marcos Antonio; Codina, Anna Esteve; Gut, Marta; Vaque, Jose Pedro; Crespo, Javier; Arias-Loste, Maria Teresahttps://doi.org/10.1016/j.jhepr.2024.101167
A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)2024-10-01Holland, SH; Carmona-Martinez, R; O'Connor, K; O'Neil, D; Roos, A; Spendiff, S; Lochmüller, Hhttps://doi.org/10.3390/biom14101252
Gelada genomes highlight events of gene flow, hybridisation and local adaptation that track past climatic changes2024-10-01Caldon, M; Mutti, G; Mondanaro, A; Imai, H; Shotake, T; Garcia, GO; Belay, G; Morata, J; Trotta, JR; Montinaro, F; Gippoliti, S; Capelli, Chttps://doi.org/10.1111/mec.17514
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases2024-09-27Estévez-Arias B; Matalonga L; Yubero D; Polavarapu K; Codina A; Ortez C; Carrera-García L; Expósito-Escudero J; Jou C; Meyer S; Kilicarslan OA; Aleman A; Thompson R; Luknárová R; Esteve-Codina A; Gut M; Laurie S; Demidov G; Yépez VA; Beltran S; Gagneur J; Topf A; Lochmüller H; Nascimento A; Hoenicka J; Palau F; Natera-de Benito Dhttps://doi.org/10.1038/s41431-024-01699-4
An interconnected data infrastructure to support large-scale rare disease research2024-09-20Johansson, LF; Laurie, S; Spalding, D; Gibson, S; Ruvolo, D; Thomas, C; Piscia, D; de Andrade, F; Been, G; Bijlsma, M; Brunner, H; Cimerman, S; Dizjikan, FY; Ellwanger, K; Fernandez, M; Freeberg, M; van de Geijn, GJ; Kanninga, R; Maddi, V; Mehtarizadeh, M; Neerincx, P; Ossowski, S; Rath, A; Roelofs-Prins, D; Stok-Benjamins, M; van der Velde, KJ; Veal, C; van der Vries, G; Wadsley, M; Warren, G; Zurek, B; Keane, T; Graessner, H; Beltran, S; Swertz, MA; Brookes, AJhttps://doi.org/10.1093/gigascience/giae058
The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics2024-09-18Mc Cartney, Ann M.; Formenti, Giulio; Mouton, Alice; De Panis, Diego; Marins, Luísa S.; Leitão, Henrique G.; Diedericks, Genevieve; Kirangwa, Joseph; Morselli, Marco; Salces-Ortiz, Judit; Escudero, Nuria; Iannucci, Alessio; Natali, Chiara; Svardal, Hannes; Fernández, Rosa; De Pooter, Tim; Joris, Geert; Strazisar, Mojca; Wood, Jonathan MD.; Herron, Katie E.; Seehausen, Ole; Watts, Phillip C.; Shaw, Felix; Davey, Robert P.; Minotto, Alice; Fernández, José M.; Böhne, Astrid; Alegria, Carla; Alioto, Tyler; Alves, Paulo C.; Amorim, Isabel R.; Aury, Jean-Marc; Backstrom, Niclas; Baldrian, Petr; Baltrunaite, Laima; Barta, Endre; BedHom, Bertrand; Belser, Caroline; Bergsten, Johannes; Bertrand, Laurie; Bilandija, Helena; Binzer-Panchal, Mahesh; Bista, Iliana; Blaxter, Mark; Borges, Paulo AV.; Dias, Guilherme Borges; Bosse, Mirte; Brown, Tom; Bruggmann, Rémy; Buena-Atienza, Elena; Burgin, Josephine; Buzan, Elena; Cariani, Alessia; Casadei, Nicolas; Chiara, Matteo; Chozas, Sergio; Čiampor, Fedor; Crottini, Angelica; Cruaud, Corinne; Cruz, Fernando; Dalen, Love; De Biase, Alessio; del Campo, Javier; Delic, Teo; Dennis, Alice B.; Derks, Martijn FL.; Diroma, Maria Angela; Djan, Mihajla; Duprat, Simone; Eleftheriadi, Klara; Feulner, Philine GD.; Flot, Jean-François; Forni, Giobbe; Fosso, Bruno; Fournier, Pascal; Fournier-Chambrillon, Christine; Gabaldon, Toni; Garg, Shilpa; Gissi, Carmela; Giupponi, Luca; Gomez-Garrido, Jessica; González, Josefa; Grilo, Miguel L.; Grüning, Björn; Guerin, Thomas; Guiglielmoni, Nadege; Gut, Marta; Haesler, Marcel P.; Hahn, Christoph; Halpern, Balint; Harrison, Peter W.; Heintz, Julia; Hindrikson, Maris; Höglund, Jacob; Howe, Kerstin; Hughes, Graham M.; Istace, Benjamin; Cock, Mark J.; Janžekovič, Franc; Jonsson, Zophonias O.; Joye-Dind, Sagane; Koskimäki, Janne J.; Krystufek, Boris; Kubacka, Justyna; Kuhl, Heiner; Kusza, Szilvia; Labadie, Karine; Lähteenaro, Meri; Lantz, Henrik; Lavrinienko, Anton; Leclère, Lucas; Lopes, Ricardo Jorge; Madsen, Ole; Magdelenat, Ghislaine; Magoga, Giulia; Manousaki, Tereza; Mappes, Tapio; Marques, Joao Pedro; Redondo, Gemma IMartinez; Maumus, Florian; McCarthy, Shane A.; Megens, Hendrik-Jan; Melo-Ferreira, Jose; Mendes, Sofia L.; Montagna, Matteo; Moreno, Joao; Mosbech, Mai-Britt; Moura, Mónica; Musilova, Zuzana; Myers, Eugene; Nash, Will J.; Nater, Alexander; Nicholson, Pamela; Niell, Manuel; Nijland, Reindert; Noel, Benjamin; Noren, Karin; Oliveira, Pedro H.; Olsen, Remi-Andre; Ometto, Lino; Oomen, Rebekah A.; Ossowski, Stephan; Palinauskas, Vaidas; Palsson, Snaebjorn; Panibe, Jerome P.; Pauperio, Joana; Pavlek, Martina; Payen, Emilie; Pawlowska, Julia; Pellicer, Jaume; Pesole, Graziano; Pimenta, Joao; Pippel, Martin; Pirttilä, Anna Maria; Poulakakis, Nikos; Rajan, Jeena; M.CRego, Rúben; Resendes, Roberto; Resl, Philipp; Riesgo, Ana; Rodin-Morch, Patrik; Soares, Andre ER.; Fernandes, Carlos Rodriguez; Romeiras, Maria M.; Roxo, Guilherme; Rüber, Lukas; Ruiz-Lopez, Maria Jose; Saarma, Urmas; da Silva, Luis P.; Sim-Sim, Manuela; Soler, Lucile; Sousa, Vitor C.; Santos, Carla Sousa; Spada, Alberto; Stefanovic, Milomir; Steger, Viktor; Stiller, Josefin; Stöck, Matthias; Struck, Torsten H.; Sudasinghe, Hiranya; Tapanainen, Riikka; Tellgren-Roth, Christian; Trindade, Helena; Tukalenko, Yevhen; Urso, Ilenia; Vacherie, Benoit; Van Belleghem, Steven M.; Van Oers, Kees; Vargas-Chavez, Carlos; Velickovic, Nevena; Vella, Noel; Vella, Adriana; Vernesi, Cristiano; Vicente, Sara; Villa, Sara; Pettersson, Olga Vinnere; Volckaert, Filip AM.; Voros, Judit; Wincker, Patrick; Winkler, Sylke; Ciofi, Claudio; Waterhouse, Robert M.; Mazzoni, Camila J.https://doi.org/10.1038/s44185-024-00054-6
561P Liquid biopsy tracking of immunotherapy-induced T cell dynamics in MSS colorectal and endometrial tumors2024-09-17Heyn, H.; Melero, J.L.; Deuner, G.; Argota, IBaraibar; Grzelak, M.; Caratu, G.; Duran, CGarcia; Béjar, J.FGrau; Illescas, D.G.; Madrid, LFariñas; Nieto, P.; Morabito, S.; Rotem, A.; Casbas-Hernandez, P.; Gros, A.; Tabernero, J.; Oaknin, A.; Sachica, J.N.; Borcherding, N.; Fernandez, M.EElezhttps://doi.org/10.1016/j.annonc.2024.08.630
ONCOLINER: A new solution for monitoring, improving, and harmonizing somatic variant calling across genomic oncology centers2024-09-11Martín, R; Gaitán, N; Jarlier, F; Feuerbach, L; de Soyres, H; Arbonés, M; Gutman, T; Puiggro, M; Ferriz, A; Gonzalez, A; Estelles, L; Gut, I; Capella-Gutierrez, S; Stein, LD; Brors, B; Royo, R; Hupé, P; Torrents, Dhttps://doi.org/10.1016/j.xgon.2024.100639
Temporal and spatial frameworks supporting plant responses to vegetation proximity2024-09-06Pastor-Andreu, P; Moreno-Romero, J; Urdin-Bravo, M; Palau-Rodriguez, J; Paulisic, S; Kastanaki, E; Vives-Peris, V; Gomez-Cadenas, A; Esteve-Codina, A; Martín-Mur, B; Rodriguez-Villalón, A; Martinez-García, JFhttps://doi.org/10.1093/plphys/kiae417