Evidence map›Paper›PMID 39041615›Full record

ArticleBioinformatics (Oxford, England)2024

Exploring gene content with pangene graphs.

Heng Li, Maximillian Marin, Maha R Farhat

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing 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

18 citing papers in PubMed.

  1. Article
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  11. Review
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  15. Review
  16. BWT construction and search at the terabase scale.Bioinformatics (Oxford, England) · 2024
    Article
  17. Fitness consequences of structural variation inferred from a House Finch pangenome.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  18. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors.

Heng LiDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA 02215, United States.ORCID 0000-0003-4874-2874
Maximillian MarinDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02215, Unites States.ORCID 0000-0002-9108-3328
Maha R FarhatDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02215, Unites States.ORCID 0000-0002-3871-5760

Funding

RESEARCH TRAINING-MEDICAL INFORMATICS 90T15LM007092 · NLM · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Nils Gehlenborg · 1992 to 2026
$32.8M
The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ting Wang · 2019 to 2026
$24.9M
Dockstore: The Community Platform for Reproducible Biomedical Workflows and ApplicationsU24HG011853 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Jonathan Lawson, Benedict Paten · 2021 to 2026
$5.7M
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
An RNA Nanosensor for the Diagnosis of Antibiotic Resistance in M. TuberculosisR01AI176498 · NIAID · HARVARD MEDICAL SCHOOL · PI Maha Farhat · 2023 to 2026
$2.9M
National Institute of Health R01HG010040National Institute of Health T15LM007092National Institute of Health U01HG010961NHGRI NIH HHS R01 HG010040NHGRI NIH HHS U01 HG010961NHGRI NIH HHS U24 HG011853NIAID NIH HHS R01 AI176498NLM NIH HHS T15 LM007092
6 · The paper itself

Abstract

motivationThe gene content regulates the biology of an organism. It varies between species and between individuals of the same species. Although tools have been developed to identify gene content changes in bacterial genomes, none is applicable to collections of large eukaryotic genomes such as the human pangenome.

resultsWe developed pangene, a computational tool to identify gene orientation, gene order, and gene copy-number changes in a collection of genomes. Pangene aligns a set of input protein sequences to the genomes, resolves redundancies between protein sequences and constructs a gene graph with each genome represented as a walk in the graph. It additionally finds subgraphs, which we call bibubbles, that capture gene content changes. Applied to the human pangenome, pangene identifies known gene-level variations and reveals complex haplotypes that are not well studied before. Pangene also works with high-quality bacterial pangenome and reports similar numbers of core and accessory genes in comparison to existing tools. AVAILABILITY AND IMPLEMENTATION: Source code at https://github.com/lh3/pangene; prebuilt pangene graphs can be downloaded from https://zenodo.org/records/8118576 and visualized at https://pangene.bioinweb.org.

Identifiers

PMID39041615
PMCPMC11286280

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.