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Story perspectives

New Tool Unveils Genetic Links to Autism and Schizophrenia

10/20/2025

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Story summary
  • Researchers report two studies that advance understanding of genetic inheritance and disease.
  • In one study, mutations such as 16p12.1 deletion interact with secondary variants to affect autism and schizophrenia.
  • This interaction explains variation in symptoms among individuals with the same mutation.
  • The study presents SDR-seq, a tool decoding DNA and RNA from the same cell.
  • SDR-seq could improve disease screening and treatment by linking variants to health outcomes.