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Assembly graph

Definition
AI-generated

An assembly graph encodes overlapping reads or k-mers as nodes and edges, often with bubbles and forks representing heterozygosity, repeats, or errors; assemblers traverse or simplify this graph to emit contigs, scaffolds, or haplotype-resolved assembly paths.

Why it matters in GWAS

Graph-based assembly and variation graph references reduce reference bias for polymorphic loci, relevant as pangenome resources supplement linear genomes for imputation and SV-aware association workflows.

Example usage

"The assembler emitted contigs after bubble popping in the assembly graph built from 21-mers."

References

  • Compeau PEC, Pevzner PA, Tesler G. (2011). How to apply de Bruijn graphs to genome assembly. Nat Biotechnol.

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