Results 41 to 50 of about 130 (105)

The European Research Infrastructures of the ESFRI Roadmap in Biological and Medical Sciences: status and perspectives

Annali dell'Istituto Superiore di Sanità, 2014
INTRODUCTION. Since 2002, the European Strategy Forum on Research Infrastructures identified the needs for Research Infrastructures (RIs) in Europe in priority fields of scientific research and drafted a strategic document, the ESFRI Roadmap, defining ...
Alessia Calzolari, Arianna Valerio, Francesca Capone, Mariarosaria Napolitano, Marika Villa, Flavia Pricci, Elena Bravo, Filippo Belardelli   +7 more
doaj   +1 more source

Expertise is the new infrastructure

Journal of Microscopy, Volume 302, Issue 3, Page 244-255, June 2026.
Abstract Today's life science endeavours are complex and interconnected, and they face diverse challenges, such as budgetary insecurity and the reproducibility crisis. As a result, core facilities have become vital in research institutes, transitioning from mere conveniences to essential components that ensure instrument access.
Pablo Hernandez‐Varas, Chiara Rossi, Erin M. Tranfield, Baubak Bajoghli, Clara Prats, Winnok H. De Vos, Sebastian Munck   +6 more
wiley   +1 more source

The Impact of Complement Factor H‐Related Protein Gene Deletions on Kidney Transplantation

Scandinavian Journal of Immunology, Volume 102, Issue 6, December 2025.
In this study, we found that rs7542235 allele G tags a deletion of the CFHR1 gene. We also found that rs6677604 allele A tags a deletion of the whole CFHR3–1 locus. The plasma proteomics studies show that both variants are associated with an altered expression of FH/FHR proteins thus revealing a novel level of intricate regulation of the complement ...
Salla Markkinen, A. Inkeri Lokki, Ilkka Helanterä, Jarmo Ritari, Jukka Partanen, Seppo Meri, Kati Hyvärinen   +6 more
wiley   +1 more source

Genome Database of the Latvian Population (LGDB): Design, Goals, and Primary Results

Journal of Epidemiology, 2018
Background: The Genome Database of the Latvian Population (LGDB) is a national biobank that collects, maintains, and processes health information, data, and biospecimens collected from representatives of the Latvian population. These specimens serve as a
Vita Rovite, Yael Wolff-Sagi, Linda Zaharenko, Liene Nikitina-Zake, Elmars Grens, Janis Klovins   +5 more
doaj   +1 more source

The human melanoma proteome atlas—Defining the molecular pathology

Clinical and Translational Medicine, 2021
The MM500 study is an initiative to map the protein levels in malignant melanoma tumor samples, focused on in‐depth histopathology coupled to proteome characterization.
Lazaro Hiram Betancourt, Jeovanis Gil, Yonghyo Kim, Viktória Doma, Uğur Çakır, Aniel Sanchez, Jimmy Rodriguez Murillo, Magdalena Kuras, Indira Pla Parada, Yutaka Sugihara, Roger Appelqvist, Elisabet Wieslander, Charlotte Welinder, Erika Velasquez, Natália Pinto deAlmeida, Nicole Woldmar, Matilda Marko‐Varga, Krzysztof Pawłowski, Jonatan Eriksson, Beáta Szeitz, Bo Baldetorp, Christian Ingvar, Håkan Olsson, Lotta Lundgren, Henrik Lindberg, Henriett Oskolas, Boram Lee, Ethan Berge, Marie Sjögren, Carina Eriksson, Dasol Kim, Ho Jeong Kwon, Beatrice Knudsen, Melinda Rezeli, Runyu Hong, Peter Horvatovich, Tasso Miliotis, Toshihide Nishimura, Harubumi Kato, Erik Steinfelder, Madalina Oppermann, Ken Miller, Francesco Florindi, Qimin Zhou, Gilberto B. Domont, Luciana Pizzatti, Fábio C. S. Nogueira, Peter Horvath, Leticia Szadai, József Tímár, Sarolta Kárpáti, A. Marcell Szász, Johan Malm, David Fenyö, Henrik Ekedahl, István Balázs Németh, György Marko‐Varga   +56 more
doaj   +1 more source

Long‐term cardiovascular risk in women with hypertensive disorders of pregnancy: Insights from polygenic risk scores

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 10, Page 1907-1917, October 2025.
FinnGen data of 213 942 women was utilized in order to investigate the risk of cardiovascular disease in women with and without hypertensive disorders of pregnancy and with diverse genetic risks for cardiovascular disease and preeclampsia measured with polygenic risk scores.
Anna Kivioja, Jaakko Tyrmi, Elli Toivonen, Heini Huhtala, FinnGen, Tiina Jääskeläinen, Johannes Kettunen, Tanja Saarela, Hannele Laivuori   +8 more
wiley   +1 more source

The Human Melanoma Proteome Atlas—Complementing the melanoma transcriptome

Clinical and Translational Medicine, 2021
The MM500 meta‐study aims to establish a knowledge basis of the tumor proteome to serve as a complement to genome and transcriptome studies. Somatic mutations and their effect on the transcriptome have been extensively characterized in melanoma. However,
Lazaro Hiram Betancourt, Jeovanis Gil, Aniel Sanchez, Viktória Doma, Magdalena Kuras, Jimmy Rodriguez Murillo, Erika Velasquez, Uğur Çakır, Yonghyo Kim, Yutaka Sugihara, Indira Pla Parada, Beáta Szeitz, Roger Appelqvist, Elisabet Wieslander, Charlotte Welinder, Natália Pinto deAlmeida, Nicole Woldmar, Matilda Marko‐Varga, Jonatan Eriksson, Krzysztof Pawłowski, Bo Baldetorp, Christian Ingvar, Håkan Olsson, Lotta Lundgren, Henrik Lindberg, Henriett Oskolas, Boram Lee, Ethan Berge, Marie Sjögren, Carina Eriksson, Dasol Kim, Ho Jeong Kwon, Beatrice Knudsen, Melinda Rezeli, Johan Malm, Runyu Hong, Peter Horvath, A. Marcell Szász, József Tímár, Sarolta Kárpáti, Peter Horvatovich, Tasso Miliotis, Toshihide Nishimura, Harubumi Kato, Erik Steinfelder, Madalina Oppermann, Ken Miller, Francesco Florindi, Quimin Zhou, Gilberto B. Domont, Luciana Pizzatti, Fábio C. S. Nogueira, Leticia Szadai, István Balázs Németh, Henrik Ekedahl, David Fenyö, György Marko‐Varga   +56 more
doaj   +1 more source

Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
In a populaiton cohort of 350 individuals, actionable P/LP variants were identified in 12 individuals (3.4%) across autosomal dominant genes. ABSTRACT Background The identification of actionable secondary findings (SFs) through clinical exome sequencing has become increasingly relevant with the integration of genomics into routine healthcare.
Laura Grech, Celine Ann Grech, Jasmine Spiteri, Dillon Mintoff, Nikolai Paul Pace   +4 more
wiley   +1 more source

Risk mapping for better governance in biobanking: the case of biobank.cy

Frontiers in Genetics
Introduction: Risk governance is central for the successful and ethical operation of biobanks and the continued social license for being custodians of samples and data. Risks in biobanking are often framed as risks for participants, whereas the biobank’s
Kaya Akyüz, Melanie Goisauf, Gillian M. Martin, Michaela Th. Mayrhofer, Stella Antoniou, Georgia Charalambidou, Constantinos Deltas, Constantinos Deltas, Apostolos Malatras, Gregory Papagregoriou, Charalambos Stefanou, Mariel Voutounou   +11 more
doaj   +1 more source

Security Toolset Release For Bbmri-Eric

, 2016
This deliverable describes the security toolset for BiobankCloud and the extensions performed in EGI-Engage since February 2016, the release of milestone M6.2 (Security and privacy requirements and secure storage architectural design are agreed).
Jim Dowling, Kamal Hakimzadeh
openaire   +1 more source