Deliverables
Report of available data resources and plan for data harmonization strategy
Access to a biobank data set through implementation of local biobank APIs and cloud resources to support federated consortium access
Implementation of phenotype harmonization
Access to first INTERVENE consortium data sets available from EMBL-EBI and CSC Cloud services
Access to first INTERVENE consortium data sets available from EMBLEBI and CSC Cloud services
Review of the consortium partner biobank and data collections, including access policies
Review of the consortium partner biobank and data collections including access policies
Data coordination centre establishedINTERVENE consortium AI algorithms supported by CSC HPC environment on synthetic data.
INTERVENE consortium AI algorithms supported by CSC HPC environment on synthetic data
Disease endpoint selection based on available resources and AI based methodsPublications
Author(s):
Nina Mars, Joni V. Lindbohm, Pietro della Briotta Parolo, Elisabeth Widén, Jaakko Kaprio, Aarno Palotie, FinnGen, Samuli Ripatti
Published in:
AJHG, Issue Vol 109, Issue 12, 2022, Page(s) 2152-2162, ISSN 0002-9297
Publisher:
University of Chicago Press
DOI:
10.1016/j.ajhg.2022.10.009
Author(s):
The members of the Estonian Biobank Research Team are Andres Metspalu, Reedik Mägi, Mari Nelis, Lili Milani, and Tõnu Esko. Ryan L. Collins, Joseph T. Glessner, Eleonora Porcu, ..., Shamil Sunyaev, Harrison Brand, Michael E. Ta
Published in:
Cell, Issue 185, 2022, Page(s) 3041-3055, ISSN 1097-4172
Publisher:
Cell Press
DOI:
10.1016/j.cell.2022.06.036
Author(s):
Kiiskinen T, Helkkula P, Krebs K, Karjalainen J, Saarentaus E, Mars N, Lehisto A, Zhou W, Cordioli M, Jukarainen S, Rämö JT, Mehtonen J, Veerapen K, Räsänen M, Ruotsalainen S, Maasha M; FinnGen; Niiranen T, Tuomi T, Salomaa V, Kurki M, Pirinen M, Palotie A, Daly M, Ganna A, Havulinna AS, Milani L, Ripatti S.
Published in:
Nature Medicine, Issue 29, 2023, Page(s) 209-218, ISSN 1546-170X
Publisher:
Nature
DOI:
10.1038/s41591-022-02122-5
Author(s):
Tianyu Cui, Khaoula El Mekkaoui, Jaakko Reinvall, Aki S. Havulinna, Pekka Marttinen, Samuel Kaski
Published in:
Communications Biology, Issue Vol 5, article 1238, 2022, ISSN 0028-0836
Publisher:
Nature Publishing Group
DOI:
10.1101/2021.03.12.435063
Author(s):
Kristina Zguro,Margherita Baldassarri,Francesca Fava,Giada Beligni,Sergio Daga,Roberto Leoncini,Lucrezia Galasso,Michele Cirianni,Stefano Rusconi,...Giuseppe Marotta,Simone Furini,GEN-COVID Multicenter Study,Alessandra Renieri, Chiara Fallerini
Published in:
Viruses, Issue 14(6), 2022, ISSN 1999-4915
Publisher:
Multidisciplinary Digital Publishing Institute (MDPI)
DOI:
10.3390/v14061185
Author(s):
Sanni E. Ruotsalainen, Ida Surakka, Nina Mars, Juha Karjalainen, Mitja Kurki, Masahiro Kanai, Kristi Krebs, Sarah Graham, Pashupati P. Mishra, Binisha H. Mishra, Juha Sinisalo, Priit Palta, Terho Lehtimäki, Olli Raitakari, Estonian Biobank Research Team, Lili Milani, The Biobank Japan Project, Yukinori Okada, FinnGen, Aarno Palotie, Elisabeth Widen, Mark J. Daly & Samuli Ripatt
Published in:
Nature, Issue 5, 2022, Page(s) article 802, ISSN 0028-0836
Publisher:
Nature Publishing Group
DOI:
10.1038/s42003-022-03552-0
Author(s):
Anthony Onoja, Nicola Picchiotti, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, GEN-COVID Multicenter Study, Francesca Colombo, Francesca Chiaromonte, Alessandra Renieri, Simone Furini & Francesco Raimondi
Published in:
Nature, Comm. Biology, Issue Vol 5, 2022, Page(s) Article 1133, ISSN 2399-3642
Publisher:
Nature
DOI:
10.1038/s42003-022-04073-6
Author(s):
Ying Wang, Shinichi Namba, Esteban Lopera, Sini Kerminen Kristin Tsuo, Kristi Läll, Masahiro Kanai, Wei Zhou, Kuan-Han Wu, Marie-Julie Favé, Laxmi Bhatta, Philip Awadalla, Ben Brumpton, Patrick Deelen, Kristian Hveem, Valeria Lo Faro, Reedik Mägi, Yoshinori Murakami, Serena Sanna, Jordan W. Smoller…Jibril Hirbo
Published in:
Cell Genomics, Issue Vol 3, Issue 1, 2023, ISSN 2666-979X
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Cell Press
DOI:
10.1101/2021.11.18.21266545
Author(s):
Adebowale Adeyemo, Mary K. Balaconis, Deanna R. Darnes, Segun Fatumo, Palmira Granados Moreno, Chani J. Hodonsky, Michael Inouye, Masahiro Kanai, Kazuto Kato, Bartha M. Knoppers, Anna C. F. Lewis, Alicia R. Martin, Mark I. McCarthy, Michelle N. Meyer, Yukinori Okada, J. Brent Richards, Lucas Richter, Samuli Ripatti, Charles N. Rotimi, Saskia C. Sanderson, Amy C. Sturm, Ricardo A. Verdugo, Elisabet
Published in:
Nature Medicine, Issue 27, 2021, Page(s) 1876-1884, ISSN 1078-8956
Publisher:
Nature Publishing Group
DOI:
10.1038/s41591-021-01549-6
Author(s):
Wei Sun, Shaoxiong Ji, Erik Cambria, Pekka Marttinen
Published in:
ACM Transactions on Intelligent Systems and Technology, Issue Vol 14, Issue 1, 2022, Page(s) 1-20, ISSN 2157-6904
Publisher:
Association for Computing Machinery (ACM)
DOI:
10.1145/3563041
Author(s):
Fritzsche, M.-C., Akyüz, K., Cano Abadía, M., McLennan, S., Marttinen, P., Mayrhofer, M. T., & Buyx, A. M. (2023). Ethical layering in AI-driven polygenic risk scores—Fritzsche, M.-C., Akyüz, K., Cano Abadía, M., McLennan, S., Marttinen, P., Mayrhofer, M. T., & Buyx, A. M
Published in:
Frontiers in Genetics, Issue 14, 2023, ISSN 1664-8021
Publisher:
Frontiers Media
DOI:
10.3389/fgene.2023.1098439
Author(s):
Iftikhar J. Kullo, Cathryn M. Lewis, Michael Inouye, Alicia R. Martin, Samuli Ripatti & Nilanjan Chatterjee
Published in:
Nature Reviews Genetics, Issue 23, 2022, Page(s) 524-532, ISSN 1471-0056
Publisher:
Nature Publishing Group
DOI:
10.1038/s41576-022-00470-z
Author(s):
Simon G. Pfisterer; Ivonne Brock; Ivonne Brock; Kristiina Kanerva; Kristiina Kanerva; Iryna Hlushchenko; Lassi Paavolainen; Pietari Ripatti; Mohammad Majharul Islam; Aija Kyttala; Maria Donata Di Taranto; Annalisa Scotto di Frega; Giuliana Fortunato; Johanna Kuusisto; Peter Horvath; Samuli Ripatti; Samuli Ripatti; Markku Laakso; Elina Ikonen; Elina Ikonen
Published in:
Cell Reports Methods, Issue Vol 2,issue 2, 2022, ISSN 0346-251X
Publisher:
Pergamon Press Ltd.
DOI:
10.1101/2021.04.19.440471
Author(s):
Aki Havulinna; Sakari Jukarainen; Nina Mars
Published in:
Nature Medicine, Issue 27, 2021, Page(s) 1876-1884, ISSN 1078-8956
Publisher:
Nature Publishing Group
DOI:
10.1101/2022.01.25.22269831v1
Author(s):
Laura Bergantini, Margherita Baldassarri, Miriana d’Alessandro, Giulia Brunelli, Gaia Fabbri, Kristina Zguro, Andrea Degl’Innocenti, GEN-COVID Multicenter study, Chiara Fallerini, Elena Bargagli & Alessandra Renieri
Published in:
Respiratory Research, Issue 24, 2023, Page(s) article no 158, ISSN 1465-9921
Publisher:
BioMed Central
DOI:
10.1186/s12931-023-02458-7
Author(s):
Charles J. Buchanan, Ben Gaunt, Peter J. Harrison, Yun Yang, Jiwei Liu, Aziz Khan, Andrew M. Giltrap, Audrey Le Bas, Philip N. Ward, Kapil Gupta, Maud Dumoux, Tiong Kit Tan, Lisa Schimaski, Sergio Daga, Nicola Picchiotti, Margherita Baldassarri, Elisa Benetti, Chiara Fallerini, Francesca Fava, Annarita Giliberti, Panagiotis I. Koukos, Matthew J. Davy, Abirami Lakshminarayanan, Xiaochao Xue, Georgi
Published in:
Science, Issue 377, 2022, ISSN 0065-7085
Publisher:
American Association for the Advancement of Science
DOI:
10.1126/science.abm3125
Author(s):
Tianyu Cui, Aki Havulinna, Pekka Marttinen, Samuel Kaski
Published in:
Bayesian Anal., 2021, Page(s) 1-31 (2021), ISSN 1936-0975
Publisher:
Carnegie Mellon University
DOI:
10.1214/21-ba1291
Author(s):
Yu Xu, Dragana Vuckovic, Scott C. Ritchie, ..., John Danesh, Nicole Soranzo, Michael Inouye
Published in:
Cell Genomics, Issue Vol 2, Issue 1, 2022, ISSN 2666-979X
Publisher:
Cell Press
DOI:
10.1016/j.xgen.2021.100086
Author(s):
Maarja Lepamets; Chiara Auwerx; Margit Nõukas; Annique Claringbould; Eleonora Porcu; Mart Kals; Tuuli Jürgenson; Andrew Paul Morris; Urmo Võsa; Murielle Bochud; Silvia Stringhini; Cisca Wijmenga; Lude Franke; Hedi Peterson; Jaak Vilo; Kaido Lepik; Reedik Mägi; Zoltán Kutalik
Published in:
HGG advances,, Issue vol. 3, no. 4, 2022, Page(s) pp. 100133, ISSN 0346-251X
Publisher:
Pergamon Press Ltd.
DOI:
10.1016/j.xhgg.2022.100133
Author(s):
Fritzsche, M., Akyüz, K., Abadía, M.C., McLennan, S., Marttinen, P. Mayrhofer, M.T., and Buyx, A.M.
Published in:
Frontiers in Genetics, Issue Vol 4, 2023, ISSN 1664-8021
Publisher:
Frontiers Media
DOI:
10.3389/fgene.2023.1098439
Author(s):
Nina Mars, Sini Kerminen, Yen-Chen A. Feng, Masahiro Kanai, Kristi Läll, Laurent F. Thomas, Anne Heidi Skogholt, Pietro della Briotta Parolo, The Biobank Japan Project, FinnGen, Benjamin M. Neale, Jordan W. Smoller, Maiken E. Gabrielsen, Kristian Hveem, Reedik Mägi, Koichi Matsuda, Yukinori Okada, Matti Pirinen, Aarno Palotie, Andrea Ganna, Alicia R. Martin
Published in:
Cell Genomics, Issue 2, Issue 4, 2022, ISSN 2666-979X
Publisher:
CellPress
DOI:
10.1038/s41467-022-29143-5
Author(s):
Nina Mars, Sini Kerminen, Yen-Chen A. Feng, Masahiro Kanai, Kristi Läll, Laurent F. Thomas, Anne Heidi Skogholt, Pietro della Briotta Parolo, The Biobank Japan Project, FinnGen, Benjamin M. Neale, Jordan W. Smoller, Maiken E. Gabrielsen, Kristian Hveem, Reedik Mägi, Koichi Matsuda, Yukinori Okada, Matti Pirinen, Aarno Palotie, Andrea Ganna, Alicia R. Martin
Published in:
Cell Genomics, Issue Apr 13; 2(4), 2023, ISSN 2666-979X
Publisher:
Cell Press
DOI:
10.1016/j.xgen.2022.100118
Author(s):
Remo Monti, Pia Rautenstrauch, Mahsa Ghanbari, Alva Rani James, Uwe Ohler, Stefan Konigorski, Christoph Lippert
Published in:
Nature Communications, Issue Vol 13, article 5332, 2022, Page(s) 1-16, ISSN 2041-1723
Publisher:
Nature Publishing Group
DOI:
10.1101/2021.05.27.444972
Author(s):
Kristina Zguro, Chiara Fallerini, Francesca Fava, Simone Furini & Alessandra Renieri
Published in:
EJHG, Issue Vol 30, 2022, Page(s) 899-907, ISSN 1018-4813
Publisher:
Natue Publishing Group
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10.1038/s41431-022-01121-x
Author(s):
Ji, Shaoxiong; Gao, Ya; Marttinen, Pekka
Published in:
Arxiv, Issue 6, 2023, ISSN 2331-8422
Publisher:
Cornell University
DOI:
10.48550/arxiv.2301.10451
Author(s):
Ying Wang, Kristin Tsuo, Masahiro Kanai, Benjamin M. Neale, Alicia R. Martin
Published in:
Annual Rev of Biomed. Data Science, Issue Vol 5, 2022, Page(s) 293-320, ISSN 2574-3414
Publisher:
Annual Reviews
DOI:
10.1146/annurev-biodatasci-111721-074830
Author(s):
Natàlia Pujol-Gualdo, Kristi Läll, Maarja Lepamets, Estonian Biobank Research Team, Henna-Riikka Rossi, Riikka K. Arffman, Terhi T. Piltonen, Reedik Mäg, Triin Laisk
Published in:
Nature Communications, Issue Vol 13, 2022, Page(s) article: 3584, ISSN 2041-1723
Publisher:
Nature Publishing Group
DOI:
10.1038/s41467-022-31188-5
Author(s):
Jiwoo Lee, Tuomo Kiiskinen, Nina Mars, Sakari Jukarainen, Erik Ingelsson, Benjamin Neale, Samuli Ripatti, Pradeep Natarajan, and Andrea Ganna
Published in:
Circulation: Genomic and Precision Medicine, Issue Vol. 14, No. 4, 2021, ISSN 0009-7322
Publisher:
Lippincott Williams & Wilkins Ltd.
DOI:
10.1161/circgen.120.003283
Author(s):
Hartonen T*, Jermy B*, Sõnajalg H, Vartiainen P, Krebs K, Vabalas A, FinnGen, Estonian Biobank Research Team, Leino T, Nohynek H, Sivelä J, Mägi R, Daly MJ, Ollila HM, Milani L, Perola M, Ripatti S, Ganna A.
Published in:
Nature Human Behaviour, Issue Vol 7, 2023, Page(s) 1069-1083, ISSN 1476-4687
Publisher:
Nature
DOI:
10.1038/s41562-023-01591-z
Author(s):
Alessandra Renieri
Published in:
EJHG, Issue Vol 30, 2022, Page(s) 870-871, ISSN 1018-4813
Publisher:
Natue Publishing Group
DOI:
10.1038/s41431-022-01142-6
Author(s):
Mari Niemi, Mark Daly, Andrea Ganna
Published in:
Nature Reviews: Genetics, Issue Vol 23, 2022, Page(s) 533-546, ISSN 0028-0836
Publisher:
Nature Publishing Group
DOI:
10.1038/s41576-022-00478-5
Author(s):
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini 2,GEN-COVID, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini
Published in:
Cells, Issue 11(24), 2022, Page(s) 4096, ISSN 2073-4409
Publisher:
MDPI
DOI:
10.3390/cells11244096
Author(s):
Xianyong Yin; Debraj Bose; Annie Kwon; Sarah C. Hanks; Anne U. Jackson; Heather M. Stringham; Ryan Welch; Anniina Oravilahti; Lilian Fernandes Silva; Adam E. Locke; Christian Fuchsberger; Susan K. Service; Michael R. Erdos; Lori L. Bonnycastle; Johanna Kuusisto; Nathan O. Stitziel; Ira M. Hall; Jean Morrison; Samuli Ripatti; Aarno Palotie; Nelson B. Freimer; Francis S. Collins; Karen L. Mohlke; La
Published in:
AJHG, Issue Vol 109, Issue 10, 2022, Page(s) 1727-1741, ISSN 0002-9297
Publisher:
University of Chicago Press
DOI:
10.1016/j.ajhg.2022.08.007
Author(s):
Max Tamlander, Nina Mars, Matti Pirinen, FinnGen, Elisabeth Widén & Samuli Ripatti
Published in:
Comm. Biology, Issue Vol 5, 2022, Page(s) 158, ISSN 2399-3642
Publisher:
Nature
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10.1038/s42003-021-02996-0
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Lang He, Prayag Tiwari, Chonghua Lv, WenShuai Wu, Liyong Guo
Published in:
Neural Networks, Issue Vol 153, 2022, Page(s) 120-129, ISSN 0893-6080
Publisher:
Pergamon Press Ltd.
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10.1016/j.neunet.2022.05.025
Author(s):
Steven H J Hageman, Ailsa J McKay, Peter Ueda, Laura H Gunn, Tomas Jernberg, Emil Hagström, Deepak L Bhatt, Ph. Gabriel Steg, Kristi Läll, Reedik Mägi, ...Kausik K Ray, Jannick A N Dorresteijn, Frank L J Visseren on behalf of the UCC-SMART Study Group and the ESC Cardiovascular Risk Collaboration
Published in:
European Heart Journal, Issue 43, issue 18, 2022, Page(s) 1715-1727, ISSN 0195-668X
Publisher:
Oxford University Press
DOI:
10.1093/eurheartj/ehac056
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Pyry, Helkkula; Tuomo, Kiiskinen; Aki S, Havulinna; Juha, Karjalainen; Seppo, Koskinen; Veikko, Salomaa; Mark J, Daly; Aarno, Palotie; Ida, Surakka; Samuli, Ripatti
Published in:
PLoS Genetics, Issue 11, 2021, ISSN 1553-7404
Publisher:
San Francisco, CA Public Library of Science ©2005-
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10.1371/journal.pgen.1009501
Author(s):
Raj, V., Cui, T., Heinonen, M., and Marttinen, P.
Published in:
The Proceedings of 26th International Conference on Artificial Intelligence and Statistics, PMLR 206:6741-6763. (AISTATS 2023), 2023, Page(s) PMLR 206:6741-6763
Publisher:
PMLR
Author(s):
Gao, Y., Ji, S., Zhang, T., Tiwari, P., and Marttinen, P.
Published in:
The European Conference on Machine Learning and Principles and Practice of Knowledge Discovery in Databases (ECML PKDD 2022), 2022
Publisher:
Springer
DOI:
10.1007/978-3-031-26390-3_35
Author(s):
Sophie Wharrie, Zhiyu Yang, Vishnu Raj, Remo Monti, Rahul Gupta, Ying Wang, Alicia Martin, Luke J O'Connor, Samuel Kaski, Pekka Marttinen, Pier Palamara, Christoph Lippert, Andrea Ganna
Published in:
NeurIPS 2022 Workshop on Synthetic Data for Empowering ML Research, 2022, Page(s) 1-7
Publisher:
NeurIPS
Author(s):
Hizli, C., John, S.T., Juuti, A., Saarinen, T., Pietiläinen, K., and Marttinen, P.
Published in:
The 40th International Conference on Machine Learning (ICML 2023), 2023
Publisher:
unkonwn
Author(s):
Cui, T., Kumar, Y., Marttinen, P., and Kaski, S.
Published in:
2022, ISBN 9781713871088
Publisher:
NeurIPS Proceedings
Author(s):
Ji, Shaoxiong; Marttinen, Pekka
Published in:
The 17th Conference of the European Chapter of the Association for Computational Linguistics (EACL 2023)., Issue 1, 2023, Page(s) 589-598
Publisher:
EACL
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10.48550/arxiv.2109.03062
Author(s):
Severi Rissanen, Pekka Marttinen
Published in:
35th Conference on Neural Information Processing Systems (NeurIPS 2021), 2021
Publisher:
NeurIPS 2021
Author(s):
Wharrie, S., Yang, Z., Ganna, A., & Kaski, S.
Published in:
Proceedings of Machine Learning Research, 2023
Publisher:
unknown
Author(s):
Ji, Shaoxiong; Sun, Wei; Li, Xiaobo; Dong, Hang; Taalas, Ara; Zhang, Yijia; Wu, Honghan; Pitkänen, Esa; Marttinen, Pekka
Published in:
J of ACM, Issue Vol 37, no 4, article 111, 2022, ISSN 0004-5411
Publisher:
Association for Computing Machinary, Inc.
DOI:
10.48550/arxiv.2201.02797
Author(s):
Bradley Jermy, Kristi Läll, Brooke Wolford, Ying Wang, Kristina Zguro, Yipeng Cheng, Masahiro Kanai, Stavroula Kanoni, Zhiyu Yang, Tuomo Hartonen, Remo Monti, Julian Wanner, Omar Youssef, Estonian Biobank research team, FinnGen, Christoph Lippert, David van Heel, Yukinori Okada, Daniel L.McCartney, Caroline Hayward, Riccardo E. Marioni, Simone Furini, Alessandra Renieri, Alicia R. Martin, Benjami
Published in:
MedRxiv, 2023, ISSN 1476-4687
Publisher:
tbc
DOI:
10.1101/2023.06.12.23291186
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