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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Nature Biotechnology(2019)10.1038/s41587-019-0217-9Source: DataRank Database

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome is a research paper published in Nature Biotechnology (2019). On theSindex it has a DataRank of 1.1. It has been cited 1,912 times.

N/A
1.1DataRank · unranked
1.1
Open Access1912 citations · base score 7.6
Cite:
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Abstract

The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (PacBio) and generate highly accurate (99.8%) long high-fidelity (HiFi) reads with an average length of 13.5 kilobases (kb). We applied our approach to sequence the well-characterized human HG002/NA24385 genome and obtained precision and recall rates of at least 99.91% for single-nucleotide variants (SNVs), 95.98% for insertions and deletions 15 megabases (Mb) and concordance of 99.997%, substantially outperforming assembly with less-accurate long reads.

Data sources & pipeline
Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring
Enrichment:Pending

FAIR Checklist

Context only (not used in score)
Findable (1/2)
  • Has DOI
Accessible (1/2)
  • Open Access
Interoperable (0/2)
    Reusable (0/3)

      FAIR checklist signals are shown for context only and do not affect DataRank scoring.

      DataRank Breakdown

      Base Score 100%Citation Network 0%

      Base Score Contribution

      1.1

      From this paper's citation signal

      Citation Network Contribution

      0

      Citation network not refreshed for this result

      This paper's DataRank is currently driven only by its base citation score. Citation network data was not refreshed for this result.

      Learn more about DataRank methodology →
      Why this DataRank?

      DataRank blends this paper's own citation count with the influence of the papers that cite it. Here, roughly 100% comes from its base citations and 0% from the citation network.

      Base score B(p)
      log1p(citation_count) — grows sub-linearly, so a paper with 1,000 citations is not 10× a paper with 100.
      Network N(p)
      Σ over citers of log1p(Cq) ÷ max(outdegreeq, 1). Being cited by a highly-cited paper with few references counts most.
      Damping factor d = 0.85
      DataRank = (1−d)·B(p) + d·N(p) — the two cards above are each already multiplied by their share.
      Self-citations excluded
      Citers sharing any OpenAlex author ID with this paper are filtered out before the network sum.

      Citers are pulled from OpenAlex sorted by cited_by_count:descand capped per paper, so when the cap binds we keep the highest-signal references and the score is reproducible across reruns.

      Read the full methodology →

      Authors (29)