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Translocation

Definition
AI-generated

A translocation is a structural rearrangement in which a genomic segment is moved to a different chromosomal location, sometimes between chromosomes.

Topics

Why it matters in GWAS

Translocations are more prominent in cytogenetics and cancer genomics than in standard SNP GWAS, but they are still part of the broader variant landscape and can disrupt genes or regulation.

Example usage

"Long-read sequencing was used to resolve a translocation affecting the candidate region."

References

  • Sudmant PH, et al. (2015). An integrated map of structural variation in 2,504 human genomes. Nature.

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