Results 61 to 70 of about 762,970 (169)

Cloud Workflows Developed in BBMRI Competence Center of EGI-Engage [PDF]

, 2017
Three technology demonstrators developed withing BBMRI Competence Centre in EGI-Engage: • proteomic workflows deployed by BBMRI.cz, • complex genomic workflows deployed by BBMRI-NL, • BiobankCloud-based workflows deployed by BBMRI.se/KTH.
Maarala, Altti Ilari (8199111), Swertz, Morris, Kanninga, Roan (8199096), Kanninga, Roan, Swertz, Morris (8199108), Neerincx, Pieter, Vojtíšek, Ondřej (8199093), Holub, Petr, Tuan, Cuong Duong (8199090), Fernández, Enol, Bzhalava, Davit, Vojtíšek, Ondřej, Tuan, Cuong Duong, Fernández, Enol (8199105), Bzhalava, Davit (8199114), Holub, Petr (5177501), Parák, Boris, Maarala, Altti Ilari, van der Vries, Gerben (8199099), Dowling, Jim, van der Vries, Gerben, Parák, Boris (8199087), Neerincx, Pieter (8199102), Dowling, Jim (8199117)   +23 more
core   +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

ADOPT BBMRI-ERIC Workshops held within the 4 regions of primary interest

, 2019
BBMRI-ERIC established itself in years as one of the key global players in the field of biobanking. While the main focus of BBMRI remains Europe, the organisation understands the need to expand its outreach outside the EU, and to set up a coherent global
Steinfelder, Erik, Bader, Anna-Liisa, Pasterk, Markus, Florindi, Francesco   +3 more
core   +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

Genetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers

Journal of Clinical Periodontology, Volume 52, Issue 9, Page 1263-1275, September 2025.
ABSTRACT Aim To perform a genome‐wide association study (GWAS) for periodontitis in the FinnGen cohort, as genetic factors contribute to periodontitis. Materials and Methods We included nearly 250,000 Finnish individuals who had visited a dentist in the public healthcare sector for a clinical oral examination. We designed three periodontitis phenotypes
Aino Salminen, Kati Hyvärinen, Jarmo Ritari, Ana Caetano, Oleg Kambur, Päivi Mäntylä, Mustafa Yilmaz, Juha Sinisalo, FinnGen, Aarno Palotie, Mark Daly, Bridget Riley‐Gills, Howard Jacob, Dirk Paul, Slavé Petrovski, Heiko Runz, Sally John, George Okafo, Robert Plenge, Joseph Maranville, Mark McCarthy, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Anders Mälarstig, Katherine Klinger, Clement Chatelain, Matthias Gossel, Karol Estrada, Robert Graham, Dawn Waterworth, Chris O’Donnell, Nicole Renaud, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Jukka Partanen, Anne Pitkäranta, Taneli Raivio, Jani Tikkanen, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey Waring, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Zhihao Ding, Marc Jung, Hanati Tuoken, Shameek Biswas, Rion Pendergrass, David Pulford, Neha Raghavan, Adriana Huertas‐Vazquez, Jae‐Hoon Sul, Anders Mälarstig, Xinli Hu, Åsa Hedman, Robert Graham, Manuel Rivas, Ma’en Obeidat, Jonathan Chung, Jonas Zierer, Mari Niemi, Samuli Ripatti, Johanna Schleutker, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Arto Mannermaa, Katriina Aalto‐Setälä, Mika Kähönen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha Rinne, Roosa Kallionpää, Juulia Partanen, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Edmond Teng, Fanli Xu, Laura Addis, John Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Martti Färkkilä, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Tim Lu, Natalie Bowers, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa Miller, Kari Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Apinya Lertratanakul, Coralie Viollet, Marla Hochfeld, Jorge Esparza Gordillo, Fabiana Farias, Nan Bing, Margit Pelkonen, Paula Kauppi, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Hubert Chen, Natalie Bowers, Joanna Betts, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Jussi Hernesniemi, Daniel Gordin, Marja‐Riitta Taskinen, Tiinamaija Tuomi, Timo Hiltunen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Audrey Chu, Dermot Reilly, Mike Mendelson, Jaakko Parkkinen, Tuomo Meretoja, Heikki Joensuu, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Esa Pitkänen, Relja Popovic, Margarete Fabre, Jennifer Schutzman, Diptee Kulkarni, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Mengzhen Liu, Stephanie Loomis, Erich Strauss, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula‐Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, David Choy, Ying Wu, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Vuokko Anttonen, Kirsi Sipilä, Hannele Laivuori, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri Aaltonen, Varpu Jokimaa, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen, Elisabeth Widen, Taru Tukiainen, Niko Välimäki, Eija Laakkonen, Jaakko Tyrmi, Heidi Silven, Eeva Sliz, Riikka Arffman, Susanna Savukoski, Triin Laisk, Natalia Pujol, Janet Kumar, Iiris Hovatta, Erkki Isometsä, Hanna Ollila, Jaana Suvisaari, Antti Mäkitie, Argyro Bizaki‐Vallaskangas, Sanna Toppila‐Salmi, Tytti Willberg, Elmo Saarentaus, Antti Aarnisalo, Elisa Rahikkala, Kristiina Aittomäki, Fredrik Åberg, Mitja Kurki, Juha Mehtonen, Priit Palta, Shabbeer Hassan, Pietro Della Briotta Parolo, Wei Zhou, Mutaamba Maasha, Susanna Lemmelä, Aoxing Liu, Arto Lehisto, Andrea Ganna, Vincent Llorens, Henrike Heyne, Joel Rämö, Rodos Rodosthenous, Satu Strausz, Tuula Palotie, Kimmo Palin, Javier Garcia‐Tabuenca, Harri Siirtola, Tuomo Kiiskinen, Jiwoo Lee, Kristin Tsuo, Kati Kristiansson, Kati Hyvärinen, Jarmo Ritari, Katri Pylkäs, Minna Karjalainen, Tuomo Mantere, Eeva Kangasniemi, Sami Heikkinen, Nina Pitkänen, Samuel Lessard, Lila Kallio, Tiina Wahlfors, Eero Punkka, Sanna Siltanen, Teijo Kuopio, Anu Jalanko, Huei‐Yi Shen, Risto Kajanne, Mervi Aavikko, Helen Cooper, Denise Öller, Rasko Leinonen, Henna Palin, Malla‐Maria Linna, Masahiro Kanai, Zhili Zheng, L. Elisa Lahtela, Mari Kaunisto, Elina Kilpeläinen, Timo P. Sipilä, Oluwaseun Alexander Dada, Awaisa Ghazal, Anastasia Kytölä, Rigbe Weldatsadik, Anu Loukola, Päivi Laiho, Tuuli Sistonen, Essi Kaiharju, Markku Laukkanen, Elina Järvensivu, Sini Lähteenmäki, Lotta Männikkö, Regis Wong, Auli Toivola, Minna Brunfeldt, Hannele Mattsson, Sami Koskelainen, Tero Hiekkalinna, Teemu Paajanen, Shuang Luo, Shanmukha Sampath Padmanabhuni, Marianna Niemi, Mika Helminen, Tiina Luukkaala, Iida Vähätalo, Jyrki Tammerluoto, Sarah Smith, Tom Southerington, Petri Lehto, Markus Perola, Aki Havulinna, Luigi Nibali, Ulvi Kahraman Gürsoy, Pirkko J. Pussinen   +329 more
wiley   +1 more source

BBMRI-ERIC ELSI Services & Research Q&A on COVID-19 & ELSI

, 2020
The world is facing an unprecedented public health challenge with the COVID-19 pandemic; this has necessitated numerous efforts being deployed by governments, health agencies and individual institutions – including in the biobanking community – to ...
Mayrhofer, Michaela Th., Chassang, Gauthier, Lavitrano, Marialuisa, Casati, Sara, Akyüz, Kaya, Jahns, Roland, Cano Abadía, Mónica, Goisauf, Melanie, Adeniran, Ayodeji   +8 more
core   +1 more source

Transcriptomic and Metabolomic Analyses in Monozygotic and Dizygotic Twins

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Monozygotic (MZ) and dizygotic (DZ) twins are studied to understand genetic and environmental influences on complex traits, however the mechanisms behind twinning are not completely understood. (Epi)genomic studies identified SNPs associated with DZ twinning and DNA methylation sites with MZ twinning.
Nikki Hubers, Gabin Drouard, Rick Jansen, René Pool, Jouke Jan Hottenga, Miina Ollikainen, Xiaoling Wang, Gonneke Willemsen, Jaakko Kaprio, Dorret I. Boomsma, Jenny van Dongen   +10 more
wiley   +1 more source

Abstracts

, 2023
Molecular Oncology, Volume 17, Issue S1, Page 1-597, June 2023.
wiley   +1 more source

Position Paper on the General Data Protection Regulation

, 2015
BBMRI-ERIC acknowledges and embraces the dynamic potential of the General Data Protection Regulation for the ERA. At the same time, wrongly aimed provisions could seriously hamper pan- European research as well.
Michaela Th. Mayrhofer, Irene Schlünder, Gauthier Chassang, Jane Reichel, Martin Boeckhout, Common Service ELSI of BBMRI-ERIC, Olga Tzortzatou, Ruth Baldacchino   +7 more
core   +1 more source