A multi-scale cell-type resolved map of trans-regulatory architecture in the aging human brain

TransMap improves trans-QTL discovery by 9.2–36.7% in simulations while keeping type I error well controlled, enabling more reliable detection of weak distal regulatory effects.

• Why it matters: Trans-QTL discovery is constrained by small effect sizes, heavy multiple testing, and reproducibility limits, leaving distal regulatory variants and programs poorly characterized.
• What they did: TransMap integrates multi-scale trans-QTL mapping with multi-phenotype genetic colocalization, building local co-regulatory program phenotypes to reduce background expression variation.
• The result: In aging human brain data from FunGen-AD (average N=476 donors), it identifies 49,532 trans-regulatory events and 1,825 candidate cis-trans-biomarker configurations, including AD-linked colocalizations in 115 loci.

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