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Reference genome

Definition
AI-generated

A reference genome is the assembled consensus sequence—usually chromosomal scaffolds plus unplaced contigs and decoys—used to align reads and name variant positions.

Topics
Sequencing Data Analysis
Related
Alternate contig Decoy sequence Genome assembly

Why it matters in GWAS

All coordinates, liftover, and panel harmonization depend on a declared reference; mismatched builds between studies break meta-analysis and annotation.

Example usage

"All variants were called against the GRCh38 reference genome with the same contig and decoy FASTA bundle."

Alternate contig Decoy sequence Genome assembly LiftOver
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

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

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