Evidence map›Paper›PMID 35748708›Full record

ArticleBioinformatics (Oxford, England)2022

The Practical Haplotype Graph, a platform for storing and using pangenomes for imputation.

P J Bradbury, T Casstevens, S E Jensen, L C Johnson, Z R Miller, B Monier, M C Romay, B Song, E S Buckler

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
–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

36 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Accessing crop genetic diversity via pangenomics.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2026
    Review
  6. Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
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

9 authors.

P J BradburyUnited States Department of Agriculture-Agricultural Research Service, Robert W. Holley Center, Ithaca, NY 14853, USA.ORCID 0000-0003-3825-8480
T CasstevensInstitute for Genomic Diversity, Cornell University, Ithaca, NY 14853, USA.
S E JensenPlant Breeding and Genetics Section, School of Integrative Plant Science, Cornell University, Ithaca, NY 14853, USA.ORCID 0000-0002-4432-4715
L C JohnsonInstitute for Genomic Diversity, Cornell University, Ithaca, NY 14853, USA.
Z R MillerInstitute for Genomic Diversity, Cornell University, Ithaca, NY 14853, USA.
B MonierInstitute for Genomic Diversity, Cornell University, Ithaca, NY 14853, USA.ORCID 0000-0001-6797-1221
M C RomayInstitute for Genomic Diversity, Cornell University, Ithaca, NY 14853, USA.
B SongInstitute for Genomic Diversity, Cornell University, Ithaca, NY 14853, USA.
E S BucklerUnited States Department of Agriculture-Agricultural Research Service, Robert W. Holley Center, Ithaca, NY 14853, USA.

Funding

Bill and Melinda Gates Foundation OPP1159867U. S. Department of Agriculture-Agricultural Research Service, National Science Foundation Research-PGR IOS-1238014
6 · The paper itself

Abstract

motivationPangenomes provide novel insights for population and quantitative genetics, genomics and breeding not available from studying a single reference genome. Instead, a species is better represented by a pangenome or collection of genomes. Unfortunately, managing and using pangenomes for genomically diverse species is computationally and practically challenging. We developed a trellis graph representation anchored to the reference genome that represents most pangenomes well and can be used to impute complete genomes from low density sequence or variant data.

resultsThe Practical Haplotype Graph (PHG) is a pangenome pipeline, database (PostGRES & SQLite), data model (Java, Kotlin or R) and Breeding API (BrAPI) web service. The PHG has already been able to accurately represent diversity in four major crops including maize, one of the most genomically diverse species, with up to 1000-fold data compression. Using simulated data, we show that, at even 0.1× coverage, with appropriate reads and sequence alignment, imputation results in extremely accurate haplotype reconstruction. The PHG is a platform and environment for the understanding and application of genomic diversity. AVAILABILITY AND IMPLEMENTATION: All resources listed here are freely available. The PHG Docker used to generate the simulation results is https://hub.docker.com/ as maizegenetics/phg:0.0.27. PHG source code is at https://bitbucket.org/bucklerlab/practicalhaplotypegraph/src/master/. The code used for the analysis of simulated data is at https://bitbucket.org/bucklerlab/phg-manuscript/src/master/. The PHG database of NAM parent haplotypes is in the CyVerse data store (https://de.cyverse.org/de/) and named/iplant/home/shared/panzea/panGenome/PHG_db_maize/phg_v5Assemblies_20200608.db. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

GenomePlant BreedingGenomicsHaplotypesSoftware

Identifiers

PMID35748708
PMCPMC9344836

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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.