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Haplotype-resolved assembly

Definition
AI-generated

Haplotype-resolved assembly reconstructs both homologous chromosomes (or phased haplotypes) as separate sequences or paths, using long reads, trio data, Hi-C, or strand-aware libraries to disambiguate variants and structural variant arrangements in cis.

Topics
Sequencing Data Analysis Bioinformatics
Related
Assembly graph De novo assembly Genome assembly

Why it matters in GWAS

Phased assemblies clarify compound variants, regulatory haplotypes, and eQTL alleles on the same chromosome, reducing ambiguity when interpreting fine-mapped loci and rare variant burden in personal genomes.

Example usage

"Haplotype-resolved assembly showed the GWAS risk alleles lay on the same parental chromosome as the coding missense variant."

Assembly graph De novo assembly Genome assembly Hi C N50 Phasing
Related-term network

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References

  • Nurk S, et al. (2022). The complete sequence of a human genome. Science.
← Haplotype Reference Consortium (HRC) HapMap Project →

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