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LiftOff

Definition
AI-generated

LiftOff is a tool that projects gene annotation from one genome assembly to another by aligning gene sequences and introns to the target assembly, preserving splice structure where possible.

Topics

Why it matters in GWAS

Meta-analyses and multi-cohort pipelines must keep variant coordinates and gene boundaries on a consistent build; lifting variants without reconciling annotation can break exon overlap checks. LiftOff helps migrate curated gene models rather than re-annotating from scratch.

Example usage

"We lifted the prior GFF from CHM13 to hg38 with LiftOff for consistent gene windows with the GWAS panel."

References

  • Shumate A, Salzberg SL. (2021). Liftoff: accurate mapping of gene annotations. Bioinformatics.
  • Ji HJ, Pertea M, Salzberg SL. (2026). Annotating genomes at increased scale and resolution. Nat Rev Genet. https://doi.org/10.1038/s41576-026-00937-3

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