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Genome assembly

Definition
AI-generated

Reconstructing chromosome-scale sequence from overlapping reads via contigs, scaffolding, and gap closing—affects reference choice for variant coordinates.

Topics
Sequencing and omics tech
Related
Contig Genome Scaffold Long Read Sequencing

Why it matters in GWAS

Bioinformatics methods determine how variants, expression, and epigenetic state are measured and summarized—shaping GWAS covariates, multi-omic integration, and functional follow-up.

Example usage

"At this locus, Genome assembly annotations were used to prioritize plausible biological mechanisms."

Contig Genome Scaffold Long Read Sequencing
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Lesk AM. (2019). Introduction to Bioinformatics. Oxford University Press.
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