Evidence map›Paper›PMID 32034321›Full record

ReviewNature reviews. Genetics2020

Pan-genomics in the human genome era.

Rachel M Sherman, Steven L Salzberg

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 196 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
196citing papers in PubMed, 1 pooled it
16.9field-weighted citation impact, top 1% of its field
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

196 citing papers in PubMed, 1 synthesis or guideline pooled it, 356 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Review
  9. Structural Variation and Its Roles in Plant Genomes.Plants (Basel, Switzerland) · 2026
    Review
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Lossless pangenome indexing using tag arrays.Algorithms for molecular biology : AMB · 2026
    Article
  19. The evolution of AI-integrated genome editing and its challenges.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  20. Article

136 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

2 authors at 1 institution in 1 country.

Rachel M ShermanDepartment of Computer Science, Whiting School of Engineering, Johns Hopkins University, Baltimore, MD, USA. rsherman@jhu.edu.ORCID http://orcid.org/0000-0003-1750-8428
Steven L SalzbergDepartment of Computer Science, Whiting School of Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-8859-7432
Johns Hopkins University · US

Funding

Computational Methods for Genome Assembly, Transcript Assembly, and Variant DiscoveryR01HG006677 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI SALZBERG, STEVEN L. · 2011 to 2025
$10.7M
Multi-omic studies of asthma severity in an African ancestry populationR01AI132476 · NIAID · UNIVERSITY OF COLORADO DENVER · PI BARNES, KATHLEEN C, MATHIAS, RASIKA ANN · 2018 to 2022
$3.5M
Computational Methods for Microbial and Microbiome Sequence AnalysisR35GM130151 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI Steven L. Salzberg · 2019 to 2026
$2.9M
A Software Framework for Exploring 1,000 Genomes of African DescentR01HL129239 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI BARNES, KATHLEEN C, SALZBERG, STEVEN L. · 2015 to 2017
$1.4M
NHGRI NIH HHS R01 HG006677NHLBI NIH HHS R01 HL129239NIAID NIH HHS R01 AI132476NIGMS NIH HHS R35 GM130151
6 · The paper itself

Abstract

Since the early days of the genome era, the scientific community has relied on a single 'reference' genome for each species, which is used as the basis for a wide range of genetic analyses, including studies of variation within and across species. As sequencing costs have dropped, thousands of new genomes have been sequenced, and scientists have come to realize that a single reference genome is inadequate for many purposes. By sampling a diverse set of individuals, one can begin to assemble a pan-genome: a collection of all the DNA sequences that occur in a species. Here we review efforts to create pan-genomes for a range of species, from bacteria to humans, and we further consider the computational methods that have been proposed in order to capture, interpret and compare pan-genome data. As scientists continue to survey and catalogue the genomic variation across human populations and begin to assemble a human pan-genome, these efforts will increase our power to connect variation to human diversity, disease and beyond.

Indexed as

Genome, HumanGenomicsGenome, BacterialGenome, PlantHumans

Identifiers

PMID32034321
PMCPMC7752153
OpenAlexW3005228641

What OpenQuestion holds

Textmetadata
LicenceTDM
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.