The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

Autor: Ann M. Mc Cartney, Giulio Formenti, Alice Mouton, Diego De Panis, Luísa S. Marins, Henrique G. Leitão, Genevieve Diedericks, Joseph Kirangwa, Marco Morselli, Judit Salces-Ortiz, Nuria Escudero, Alessio Iannucci, Chiara Natali, Hannes Svardal, Rosa Fernández, Tim De Pooter, Geert Joris, Mojca Strazisar, Jonathan M. D. Wood, Katie E. Herron, Ole Seehausen, Phillip C. Watts, Felix Shaw, Robert P. Davey, Alice Minotto, José M. Fernández, Astrid Böhne, Carla Alegria, Tyler Alioto, Paulo C. Alves, Isabel R. Amorim, Jean-Marc Aury, Niclas Backstrom, Petr Baldrian, Laima Baltrunaite, Endre Barta, Bertrand BedHom, Caroline Belser, Johannes Bergsten, Laurie Bertrand, Helena Bilandija, Mahesh Binzer-Panchal, Iliana Bista, Mark Blaxter, Paulo A. V. Borges, Guilherme Borges Dias, Mirte Bosse, Tom Brown, Rémy Bruggmann, Elena Buena-Atienza, Josephine Burgin, Elena Buzan, Alessia Cariani, Nicolas Casadei, Matteo Chiara, Sergio Chozas, Fedor Čiampor, Angelica Crottini, Corinne Cruaud, Fernando Cruz, Love Dalen, Alessio De Biase, Javier del Campo, Teo Delic, Alice B. Dennis, Martijn F. L. Derks, Maria Angela Diroma, Mihajla Djan, Simone Duprat, Klara Eleftheriadi, Philine G. D. Feulner, Jean-François Flot, Giobbe Forni, Bruno Fosso, Pascal Fournier, Christine Fournier-Chambrillon, Toni Gabaldon, Shilpa Garg, Carmela Gissi, Luca Giupponi, Jessica Gomez-Garrido, Josefa González, Miguel L. Grilo, Björn Grüning, Thomas Guerin, Nadege Guiglielmoni, Marta Gut, Marcel P. Haesler, Christoph Hahn, Balint Halpern, Peter W. Harrison, Julia Heintz, Maris Hindrikson, Jacob Höglund, Kerstin Howe, Graham M. Hughes, Benjamin Istace, Mark J. Cock, Franc Janžekovič, Zophonias O. Jonsson, Sagane Joye-Dind, Janne J. Koskimäki, Boris Krystufek, Justyna Kubacka, Heiner Kuhl, Szilvia Kusza, Karine Labadie, Meri Lähteenaro, Henrik Lantz, Anton Lavrinienko, Lucas Leclère, Ricardo Jorge Lopes, Ole Madsen, Ghislaine Magdelenat, Giulia Magoga, Tereza Manousaki, Tapio Mappes, Joao Pedro Marques, Gemma I. Martinez Redondo, Florian Maumus, Shane A. McCarthy, Hendrik-Jan Megens, Jose Melo-Ferreira, Sofia L. Mendes, Matteo Montagna, Joao Moreno, Mai-Britt Mosbech, Mónica Moura, Zuzana Musilova, Eugene Myers, Will J. Nash, Alexander Nater, Pamela Nicholson, Manuel Niell, Reindert Nijland, Benjamin Noel, Karin Noren, Pedro H. Oliveira, Remi-Andre Olsen, Lino Ometto, Rebekah A. Oomen, Stephan Ossowski, Vaidas Palinauskas, Snaebjorn Palsson, Jerome P. Panibe, Joana Pauperio, Martina Pavlek, Emilie Payen, Julia Pawlowska, Jaume Pellicer, Graziano Pesole, Joao Pimenta, Martin Pippel, Anna Maria Pirttilä, Nikos Poulakakis, Jeena Rajan, Rúben M.C. Rego, Roberto Resendes, Philipp Resl, Ana Riesgo, Patrik Rodin-Morch, Andre E. R. Soares, Carlos Rodriguez Fernandes, Maria M. Romeiras, Guilherme Roxo, Lukas Rüber, Maria Jose Ruiz-Lopez, Urmas Saarma, Luis P. da Silva, Manuela Sim-Sim, Lucile Soler, Vitor C. Sousa, Carla Sousa Santos, Alberto Spada, Milomir Stefanovic, Viktor Steger, Josefin Stiller, Matthias Stöck, Torsten H. Struck, Hiranya Sudasinghe, Riikka Tapanainen, Christian Tellgren-Roth, Helena Trindade, Yevhen Tukalenko, Ilenia Urso, Benoit Vacherie, Steven M. Van Belleghem, Kees Van Oers, Carlos Vargas-Chavez, Nevena Velickovic, Noel Vella, Adriana Vella, Cristiano Vernesi, Sara Vicente, Sara Villa, Olga Vinnere Pettersson, Filip A. M. Volckaert, Judit Voros, Patrick Wincker, Sylke Winkler, Claudio Ciofi, Robert M. Waterhouse, Camila J. Mazzoni

Publikováno v: npj Biodiversity, Vol 3, Iss 1, Pp 1-17 (2024)

Abstract A genomic database of all Earth’s eukaryotic species could contribute to many scientific discoveries; however, only a tiny fraction of species have genomic information available. In 2018, scientists across the world united under the Earth

Externí odkaz: https://doaj.org/article/b33c23ed92fb4c57a6c4862befc4a2d6

Methylmap: visualization of modified nucleotides for large cohort sizes

Autor: Elise Coopman, Marleen Van den Broeck, Tim De Poorter, Geert Joris, Dennis W Dickson, Mojca Strazisar, Rosa Rademakers, Wouter De Coster

SummaryMethylmap is a tool developed for visualization of modified nucleotide frequencies per position, especially for large numbers of samples. Various input possibilities are supported, including the standardized BAM/CRAM files containing MM and ML

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e6ae3e136216e2c8eaffbc309480372
https://doi.org/10.1101/2022.11.28.518239

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation

Autor: Alexander, Neumann, Fahri, Küçükali, Isabelle, Bos, Stephanie J B, Vos, Sebastiaan, Engelborghs, Tim, De Pooter, Geert, Joris, Peter, De Rijk, Ellen, De Roeck, Magda, Tsolaki, Frans, Verhey, Pablo, Martinez-Lage, Mikel, Tainta, Giovanni, Frisoni, Oliver, Blin, Jill, Richardson, Régis, Bordet, Philip, Scheltens, Julius, Popp, Gwendoline, Peyratout, Peter, Johannsen, Lutz, Frölich, Rik, Vandenberghe, Yvonne, Freund-Levi, Johannes, Streffer, Simon, Lovestone, Cristina, Legido-Quigley, Mara, Ten Kate, Frederik, Barkhof, Mojca, Strazisar, Henrik, Zetterberg, Lars, Bertram, Pieter Jelle, Visser, Christine, van Broeckhoven, Kristel, Sleegers

Publikováno v: Molecular psychiatry. 27(4)

Alzheimer's disease (AD) biomarkers represent several neurodegenerative processes, such as synaptic dysfunction, neuronal inflammation and injury, as well as amyloid pathology. We performed an exome-wide rare variant analysis of six AD biomarkers (β

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bee78aac0b6859414f0159ed240be4ed
https://pubmed.ncbi.nlm.nih.gov/35173266

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

Autor: Karin Peeters, Jean-Jacques Martin, Lubina Dillen, Sebastiaan Engelborghs, Anne Sieben, Marc Cruts, Carolien Vaerenberg, Maria Mattheijssens, Julie van der Zee, Veerle Bäumer, Sandra Pereson, Geert Joris, Stéphanie Philtjens, Githa Maes, Ivy Cuijt, Christine Van Broeckhoven, Patrick Santens, Ellen Elinck, Tim Van Langenhove, Steven Vermeulen, Wim Robberecht, Jasper Van Dongen, Caroline Van Cauwenberghe, Patrick Cras, Marleen Van den Broeck, Ellen Corsmit, Karolien Bettens, Peter Paul De Deyn, Rik Vandenberghe, Ilse Gijselinck, Jan De Bleecker, Peter De Jonghe, Gernot Kleinberger, Kristel Sleegers, Jonathan Janssens

Publikováno v: The lancet neurology

Summary Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease spectrum. A locus on chromosome 9p21 has been associated with both d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fe04c943e2484c0f617584d697467d
https://doi.org/10.1016/s1474-4422(11)70261-7

Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse models

Autor: Samir Kumar-Singh, Christine Van Broeckhoven, Sandra Pereson, Eileen McGowan, Hans Wils, Dieter Deforce, Mado Vandewoestyne, Gernot Kleinberger, Bianca Van Broeck, Geert Joris, Ivy Cuijt, Mike Hutton

Publikováno v: The Journal of Pathology. 219:173-181

Amyloid-beta (Abeta) plaques are pathological hallmarks of Alzheimer disease (AD). In addition, innate inflammatory responses, such as those mediated by microglia, are integral to the pathogenesis of AD. Interestingly, only dense-core plaques and not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5357375d638c435214ec8a7c60d60c05
https://doi.org/10.1002/path.2580