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Chunk #11 — RESULTS — Genetic effects on pre-mRNA splicing in aging brains

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Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility.
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To assess the extent of sQTL replication, we compared our sQTLs to the recently published dataset from the CommonMind Consortium (CMC), consisting of DLFPC profiles from 258 persons with schizophrenia and 279 control subjects28 (Supplementary Note). Our sQTLs yield a Storey’s π1 = 0.78 in the CMC data, suggesting substantial sharing of sQTLs between these two different brain collections (Fig. 3b). Moreover, 93% of shared sQTLs showed the same direction of effect (Fig. 3b). The fraction of sQTLs that are novel deserves further evaluation to assess the extent to which they may be context-specific given that the average age at death of our participants (88 years) is significantly older than that of the CMC dataset.