OTTERS: a powerful TWAS framework leveraging summary-level reference data

eQTLGen Consortium

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Article number1271
JournalNature Communications
Issue number1
Publication statusPublished - 1 Dec 2023

Cite this