Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain

Our results emphasize the widespread presence of previously undetected RNA and protein isoforms in the human brain and provide an effective approach to address this knowledge gap. Uncovering the isoform repertoire of candidate neuropsychiatric risk genes will underpin future analyses of the functional impact these isoforms have on neuropsychiatric disorders, enabling the translation of genomic findings into a pathophysiological understanding of disease.

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Publication Details

Journal
Genome biology
Published
2025-09-23
DOI
https://doi.org/10.1186/s13059-025-03724-1
Citations
1
Primary Topic
RNA Research and Splicing
Type
article
Field-Weighted Citation Impact
0.81

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Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain

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Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain

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article en
1 citations

Abstract

Our results emphasize the widespread presence of previously undetected RNA and protein isoforms in the human brain and provide an effective approach to address this knowledge gap. Uncovering the isoform repertoire of candidate neuropsychiatric risk genes will underpin future analyses of the functional impact these isoforms have on neuropsychiatric disorders, enabling the translation of genomic findings into a pathophysiological understanding of disease.

Genome biologyVol. 26(1)
The University of Melbourne (AU), Walter and Eliza Hall Institute of Medical Research (AU), Florey Institute of Neuroscience and Mental Health (AU), Science for Life Laboratory (SE), Alfred Health (AU), Melbourne Genomics Health Alliance (AU), KTH Royal Institute of Technology (SE)
National Alliance for Research on Schizophrenia and Depression, FightMND, Medical Research Council, National Health and Medical Research Council
Openalex Percentile: Top 23%
RNA Research and Splicing
0.81
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