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June 12, 2026Current Opinion in Genetics & DevelopmentOpen Access

Beyond the gene: isoform diversity as a key contributor to human brain disorders

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Authors

YMYunlong MaCJConnor JopsMGMichael J. Gandal

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Overview

Review highlights how isoform diversity impacts neurodevelopment and psychiatric disorders, suggesting new research pathways.

Key Points

  • This review aims to explore the significance of isoform diversity in neurodevelopmental and psychiatric disorders.
  • Reviewed advancements in long-read sequencing for full-length transcriptome profiling.
  • Analyzed isoform discovery, quantification, and genetic regulation based on recent studies.
  • Outlined the shift from gene-centric to isoform-centric approaches in neurogenetics.
  • LR-seq studies revealed tens of thousands of unannotated brain isoforms.
  • Neuronal maturation is marked by increased exon inclusion and 3' UTR lengthening.
  • Isoform-resolved genetic mapping enhances NPD gene discovery beyond traditional gene-level analyses.

Cite This Study

Ma et al. (2026) studied this question.

synapsesocial.com/papers/6a2ba20e8101cf8926f011e3https://doi.org/10.1016/j.gde.2026.102497
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