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In a new study into the genetic variants associated with the development of schizophrenia, researchers used a genetic sequencing technique that can parse which variants trigger gene expression and which ones do not.

The team hopes that the discovery, and those that follow, could help create targeted therapies going forward.

University of North Carolina School of Medicine scientists and colleagues are figuring out which of the 5,000 variants associated with schizophrenia have an actual causal effect in the development of the condition that affects millions of people worldwide.

The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1–3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5. Here, the Telomere-to-Telomere (T2T) consortium presents the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of se...