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De novo assembly

Definition
AI-generated

De novo assembly reconstructs sequences from overlapping reads without relying on a close reference genome, producing contigs, scaffolds, and an assembly graph; quality is often summarized with N50 and assembly gap statistics.

Topics
Sequencing Data Analysis Bioinformatics
Related
Assembly gap Assembly graph Consensus sequence

Why it matters in GWAS

Most human GWAS use a fixed reference, but de novo and pangenome representations matter for structurally variable regions, novel haplotypes, and non-model systems where reference bias could distort genotyping and association.

Example usage

"We compared variant calls after mapping to GRCh38 versus a haplotype-resolved de novo assembly of the same sample."

Assembly gap Assembly graph Consensus sequence Genome assembly Haplotype-resolved assembly N50 Reference genome Reference-guided assembly
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.
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