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Contig

Definition
AI-generated

A contig is a continuous assembled stretch of sequence without gaps, built from overlapping reads or clones.

Why it matters in GWAS

Variant positions, liftover chains, and imputation panels depend on a stable reference assembly; contig names and ordering differ across builds (e.g. GRCh37 vs GRCh38) and must be handled consistently in pipelines.

Example usage

"The assembly contig containing the variant was checked for gaps before structural interpretation."

References

  • Schneider VA, et al. (2017). Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res.

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