@article{62b940c9016442559af98980ba50bbfe,
title = "OTTERS: a powerful TWAS framework leveraging summary-level reference data",
abstract = "Most existing TWAS tools require individual-level eQTL reference data and thus are not applicable to summary-level reference eQTL datasets. The development of TWAS methods that can harness summary-level reference data is valuable to enable TWAS in broader settings and enhance power due to increased reference sample size. Thus, we develop a TWAS framework called OTTERS (Omnibus Transcriptome Test using Expression Reference Summary data) that adapts multiple polygenic risk score (PRS) methods to estimate eQTL weights from summary-level eQTL reference data and conducts an omnibus TWAS. We show that OTTERS is a practical and powerful TWAS tool by both simulations and application studies.",
author = "\{eQTLgen Consortium\} and Qile Dai and Geyu Zhou and Hongyu Zhao and Urmo V{\~o}sa and Lude Franke and Alexis Battle and Alexander Teumer and Terho Lehtim{\"a}ki and Raitakari, \{Olli T.\} and T{\~o}nu Esko and Mawuss{\'e} Agbessi and Habibul Ahsan and Isabel Alves and Andiappan, \{Anand Kumar\} and Wibowo Arindrarto and Philip Awadalla and Alexis Battle and Frank Beutner and Bonder, \{Marc Jan\} and Boomsma, \{Dorret I.\} and Christiansen, \{Mark W.\} and Annique Claringbould and Patrick Deelen and Fav{\'e}, \{Marie Julie\} and Timothy Frayling and Gharib, \{Sina A.\} and Greg Gibson and Heijmans, \{Bastiaan T.\} and Gibran Hemani and Rick Jansen and Mika K{\"a}h{\"o}nen and Anette Kalnapenkis and Silva Kasela and Johannes Kettunen and Yungil Kim and Holger Kirsten and Peter Kovacs and Knut Krohn and Jaanika Kronberg and Viktorija Kukushkina and Zoltan Kutalik and Bernett Lee and Markus Loeffler and Marigorta, \{Urko M.\} and Hailang Mei and Brenda Penninx and Veldink, \{Jan H.\} and Visscher, \{Peter M.\} and Westra, \{Harm Jan\} and Cisca Wijmenga and Epstein, \{Michael P.\} and Jingjing Yang",
note = "Funding Information: The authors thank Dr Greg Gibson from Georgia Tech for his insightful comments and discussion that help the development and improve the quality of this manuscript. This work was supported by National Institutes of Health grant awards R35GM138313 (Q.D., J.Y.), RF1AG071170 (Q.D., M.P.E.), and Estonian Research Council Grant PUT (PRG1291) for T.E. NIH/NIA grants P30AG10161, R01AG15819, R01AG17917, R01AG30146, R01AG36836, R01AG56352, U01AG32984, U01AG46152, U01AG61356, the Illinois Department of Public Health, the Translational Genomics Research Institute support the generation of the ROS/MAP data led by A.S.B., P.L.D.J. and D.A.B. The Young Finns Study has been financially supported by the Academy of Finland: grants 322098, 286284, 134309 (Eye), 126925, 121584, 124282, 255381, 256474, 283115, 319060, 320297, 314389, 338395, 330809, and 104821, 129378 (Salve), 117797 (Gendi), and 141071 (Skidi), the Social Insurance Institution of Finland, Competitive State Research Financing of the Expert Responsibility area of Kuopio, Tampere and Turku University Hospitals (grant X51001), Juho Vainio Foundation, Paavo Nurmi Foundation, Finnish Foundation for Cardiovascular Research, Finnish Cultural Foundation, The Sigrid Juselius Foundation, Tampere Tuberculosis Foundation, Emil Aaltonen Foundation, Yrj{\"o} Jahnsson Foundation, Signe and Ane Gyllenberg Foundation, Diabetes Research Foundation of Finnish Diabetes Association, EU Horizon 2020 (grant 755320 for TAXINOMISIS and grant 848146 for To Aition), European Research Council (grant 742927 for MULTIEPIGEN project), Tampere University Hospital Supporting Foundation, and Finnish Society of Clinical Chemistry and the Cancer Foundation Finland. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Publisher Copyright: {\textcopyright} 2023, The Author(s).",
year = "2023",
month = dec,
doi = "10.1038/s41467-023-36862-w",
language = "English",
volume = "14",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
}