Skip to content

Reference-guided assembly

Definition
AI-generated

Reference-guided (or reference-based) assembly aligns reads to a reference genome to call variants and haplotypes or to scaffold contigs, constraining reconstruction with an existing coordinate system—contrasted with de novo assembly when the reference is distant or unavailable.

Topics
Sequencing Data Analysis Bioinformatics
Related
De novo assembly Genome assembly Graph genome

Why it matters in GWAS

Association studies depend on consistent genomic coordinates and variant calls; reference-guided pipelines dominate human GWAS, while choice of reference and graph genome alternatives affects imputation and SV sensitivity.

Example usage

"Platinum genomes were reassembled with reference-guided assembly scaffolds anchored to GRCh38."

De novo assembly Genome assembly Graph genome Read mapping Reference genome Variation graph
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

  • Nurk S, et al. (2022). The complete sequence of a human genome. Science.
← Reference genome NCBI Reference Sequence (RefSeq) →

Last updated (UTC · Git history)