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

Title: OTTERS:a powerful TWAS framework leveraging summary-level reference data
Authors: Dai,Qile; Zhou,Geyu; Võsa,Urmo; Franke,Lude; Battle,Alexis; Teumer,Alexander; Lehtimäki,Terho; Raitakari,Olli T.; Esko,Tõnu; Deelen, Patrick; eQTLGen Consortium; Genetica; Genetica Klinische Genetica; Brain; Genetic Risks; Neurologen
Publication Year: 2023
Subject Terms: General Chemistry; General Biochemistry,Genetics and Molecular Biology; General Physics and Astronomy
Description: 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.
Document Type: article in journal/newspaper
File Description: text/plain
Language: English
ISSN: 2041-1723
Relation: https://dspace.library.uu.nl/handle/1874/458743
Availability: https://dspace.library.uu.nl/handle/1874/458743
Rights: info:eu-repo/semantics/OpenAccess
Accession Number: edsbas.CC3749C6
Database: BASE