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Article

Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain.

Nature genetics - 1 Dec 2023

Bhattacharya Arjun, Vo Daniel D, Jops Connor, Kim Minsoo, Wen Cindy, Hervoso Jonatan L, Pasaniuc Bogdan, Gandal Michael J

Abstract excerpt

Methods integrating genetics with transcriptomic reference panels prioritize risk genes and mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance on total gene expression as a molecular outcome measure. This challenge is particularly relevant for the brain, in which extensive splicing generates multiple distinct transcript-isoforms per gene. Due to complex correlation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38036788
DOI: 10.1038/s41588-023-01560-2
PMCID: PMC10703692

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