Evidence map›Paper›PMID 33066802›Full record

ArticleGenome biology2020

The design and construction of reference pangenome graphs with minigraph.

Heng Li, Xiaowen Feng, Chong Chu

Abstract readEvaluation Study
In one paragraph

Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 257 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
257citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

257 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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  4. Review
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  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. GBZ-base and GAF-base: Indexed pangenome file formats.bioRxiv : the preprint server for biology · 2026
    Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Approaches to Studying Viral Pangenome Variation Graphs.Genomics, proteomics & bioinformatics · 2026
    Review
  20. Lossless pangenome indexing using tag arrays.Algorithms for molecular biology : AMB · 2026
    Article

197 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Heng LiDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, 02215, MA, USA. hli@ds.dfci.harvard.edu.ORCID 0000-0003-4874-2874
Xiaowen FengDepartment of Data Sciences, Dana-Farber Cancer Institute, Boston, 02215, MA, USA.
Chong ChuDepartment of Biomedical Informatics, Harvard Medical School, Boston, 02215, MA, USA.

Funding

Advanced computational methods in analyzing high-throughput sequencing dataR01HG010040 · NHGRI · DANA-FARBER CANCER INST · PI Heng Li · 2018 to 2026
$3.7M
The construction and utility of reference pan-genome graphsU01HG010961 · NHGRI · DANA-FARBER CANCER INST · PI LI, HENG, PATEN, BENEDICT · 2020 to 2023
$3.2M
NHGRI NIH HHS R01 HG010040NHGRI NIH HHS U01 HG010961
6 · The paper itself

Abstract

The recent advances in sequencing technologies enable the assembly of individual genomes to the quality of the reference genome. How to integrate multiple genomes from the same species and make the integrated representation accessible to biologists remains an open challenge. Here, we propose a graph-based data model and associated formats to represent multiple genomes while preserving the coordinate of the linear reference genome. We implement our ideas in the minigraph toolkit and demonstrate that we can efficiently construct a pangenome graph and compactly encode tens of thousands of structural variants missing from the current reference genome.

Indexed as

Genome, HumanGenomic Structural VariationAnimalsGenomicsHumansReference StandardsBioinformaticsGenomicsPangenome

Identifiers

PMID33066802
PMCPMC7568353

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.