TY - JOUR
T1 - OTTERS
T2 - a powerful TWAS framework leveraging summary-level reference data
AU - Dai, Qile
AU - Zhou, Geyu
AU - Zhao, Hongyu
AU - Võsa, Urmo
AU - Franke, Lude
AU - Battle, Alexis
AU - Teumer, Alexander
AU - Lehtimäki, Terho
AU - Raitakari, Olli T.
AU - Esko, Tõnu
AU - Agbessi, Mawussé
AU - Ahsan, Habibul
AU - Alves, Isabel
AU - Andiappan, Anand Kumar
AU - Arindrarto, Wibowo
AU - Awadalla, Philip
AU - Beutner, Frank
AU - Jan Bonder, Marc
AU - Boomsma, Dorret I.
AU - Christiansen, Mark W.
AU - Claringbould, Annique
AU - Deelen, Patrick
AU - Favé, Marie Julie
AU - Frayling, Timothy
AU - Gharib, Sina A.
AU - Gibson, Greg
AU - Heijmans, Bastiaan T.
AU - Hemani, Gibran
AU - Jansen, Rick
AU - Kähönen, Mika
AU - Kalnapenkis, Anette
AU - Kasela, Silva
AU - Kettunen, Johannes
AU - Kim, Yungil
AU - Kirsten, Holger
AU - Kovacs, Peter
AU - Krohn, Knut
AU - Kronberg, Jaanika
AU - Kukushkina, Viktorija
AU - Kutalik, Zoltan
AU - Lee, Bernett
AU - Loeffler, Markus
AU - Marigorta, Urko M.
AU - Mei, Hailang
AU - Milani, Lili
AU - Montgomery, Grant W.
AU - Müller-Nurasyid, Martina
AU - Nauck, Matthias
AU - Nivard, Michel G.
AU - Veldink, Jan H.
N1 - Publisher Copyright:
© 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85149555455
U2 - 10.1038/s41467-023-36862-w
DO - 10.1038/s41467-023-36862-w
M3 - Article
C2 - 36882394
AN - SCOPUS:85149555455
SN - 2041-1723
VL - 14
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 1271
ER -