Evidence map›Paper›PMID 33372596›Full record

ArticleBMC genomics2020

LongGF: computational algorithm and software tool for fast and accurate detection of gene fusions by long-read transcriptome sequencing.

Qian Liu, Yu Hu, Andres Stucky, Li Fang, Jiang F Zhong, Kai Wang

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
2.7field-weighted citation impact, top 9% 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

43 citing papers in PubMed, 53 citations in OpenAlex.

  1. Review
  2. Characteristics of fusion genes in breast cancer.Cancer cell international · 2026
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  13. Whole transcriptome analysis identifiesCancer pathogenesis and therapy · 2025
    Article
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  16. Long and Accurate: How HiFi Sequencing is Transforming Genomics.Genomics, proteomics & bioinformatics · 2025
    Review
  17. Article
  18. Article
  19. Review
  20. Long-read RNA sequencing: A transformative technology for exploring transcriptome complexity in human diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
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

6 authors at 2 institutions in 1 country.

Qian LiuRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Yu HuRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Andres StuckyDepartment of Otolaryngology, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Li FangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Jiang F ZhongDepartment of Otolaryngology, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. wangk@email.chop.edu.ORCID http://orcid.org/0000-0002-5585-982X
Children's Hospital of Philadelphia · USUniversity of Southern California · US

Funding

Detection and annotation of structural variants from long-read sequencingR01GM132713 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI WANG, KAI · 2019 to 2022
$1.9M
NIGMS NIH HHS R01 GM132713NIH HHS CA197903NIH HHS GM132713
6 · The paper itself

Abstract

backgroundLong-read RNA-Seq techniques can generate reads that encompass a large proportion or the entire mRNA/cDNA molecules, so they are expected to address inherited limitations of short-read RNA-Seq techniques that typically generate < 150 bp reads. However, there is a general lack of software tools for gene fusion detection from long-read RNA-seq data, which takes into account the high basecalling error rates and the presence of alignment errors.

resultsIn this study, we developed a fast computational tool, LongGF, to efficiently detect candidate gene fusions from long-read RNA-seq data, including cDNA sequencing data and direct mRNA sequencing data. We evaluated LongGF on tens of simulated long-read RNA-seq datasets, and demonstrated its superior performance in gene fusion detection. We also tested LongGF on a Nanopore direct mRNA sequencing dataset and a PacBio sequencing dataset generated on a mixture of 10 cancer cell lines, and found that LongGF achieved better performance to detect known gene fusions over existing computational tools. Furthermore, we tested LongGF on a Nanopore cDNA sequencing dataset on acute myeloid leukemia, and pinpointed the exact location of a translocation (previously known in cytogenetic resolution) in base resolution, which was further validated by Sanger sequencing.

conclusionsIn summary, LongGF will greatly facilitate the discovery of candidate gene fusion events from long-read RNA-Seq data, especially in cancer samples. LongGF is implemented in C++ and is available at https://github.com/WGLab/LongGF .

Indexed as

SoftwareTranscriptomeAlgorithmsGene FusionHigh-Throughput Nucleotide SequencingSequence Analysis, RNAComputational toolGene fusionLong-read sequencingTranscriptome sequencing

Identifiers

PMID33372596
PMCPMC7771079
OpenAlexW3116099760

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.