TWAS Study: ~33% of Disease-Gene Direction Calls Are Discordant, Misleading Drug Targets
anshulkundaje · x · 2026-10-27
A paper shared by Marios Georgakis finds that transcriptome-wide association studies (TWAS) linking disease risk variants to eQTLs often tag the right gene but get the directionality of effect wrong.
A heatmap of 484 gene-trait pairs shows only 59% concordance with LoF burden tests, while 33% are discordant. Since direction of effect determines the targeting strategy in drug development, these errors have direct implications for pipeline decisions.
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