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Single-molecule real-time sequencing (SMRT)

Definition
AI-generated

PacBio single-molecule real-time (SMRT) sequencing reads DNA in long continuous fragments; HiFi reads combine long length with high accuracy and are widely used for assembly, phasing, and structural variant detection.

Synonyms

Why it matters in GWAS

PacBio HiFi data improves resolution of structural variation, haplotypes, and difficult regions when validating or extending GWAS hits beyond short-read arrays and imputation.

Example usage

"A replication analysis checks whether assumptions tied to Single-molecule real-time sequencing (SMRT) hold across cohorts."

References

  • Wenger AM, et al. (2019). Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol.

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