Evidence map›Paper›PMID 36318117›Full record

ArticleCancer research2023

Gene Fusion Detection and Characterization in Long-Read Cancer Transcriptome Sequencing Data with FusionSeeker.

Yu Chen, Yiqing Wang, Weisheng Chen, Zhengzhi Tan, Yuwei Song, Human Genome Structural Variation Consortium, Herbert Chen, Zechen Chong

Open access · hybridAbstract read
In one paragraph

Article in Cancer research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
3.7field-weighted citation impact, top 5% 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

35 citing papers in PubMed, 48 citations in OpenAlex.

  1. Nanopore Sequencing for Chikungunya Virus: Principles and Application.Methods in molecular biology (Clifton, N.J.) · 2027
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  19. Long and Accurate: How HiFi Sequencing is Transforming Genomics.Genomics, proteomics & bioinformatics · 2025
    Review
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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

8 authors at 1 institution in 1 country.

Yu ChenDepartment of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0002-2037-7337
Yiqing WangDepartment of Computer Science, College of Arts and Sciences, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0003-2086-1476
Weisheng ChenDepartment of Surgery, Heersink School of Medicine, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0002-7537-132X
Zhengzhi TanDepartment of Computer Science, College of Arts and Sciences, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0002-2162-2808
Yuwei SongDepartment of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0003-2537-4343
Human Genome Structural Variation Consortium
Herbert ChenDepartment of Surgery, Heersink School of Medicine, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0003-2923-6079
Zechen ChongDepartment of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Alabama Birmingham.ORCID 0000-0001-5750-1808
University of Alabama at Birmingham · US

Funding

NHLBI Data Stage Coordinating CenterOT3HL147154 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Ashok Kumar Krishnamurthy · 2018 to 2026
$98.9M
Structural variation analysis with and without a reference genomeR35GM138212 · NIGMS · UNIVERSITY OF VIRGINIA · PI Zechen Chong · 2020 to 2026
$2.6M
NHLBI NIH HHS OT3 HL147154NIGMS NIH HHS R35 GM138212
6 · The paper itself

Abstract

Gene fusions are prevalent in a wide array of cancer types with different frequencies. Long-read transcriptome sequencing technologies, such as PacBio, Iso-Seq, and Nanopore direct RNA sequencing, provide full-length transcript sequencing reads, which could facilitate detection of gene fusions. In this work, we developed a method, FusionSeeker, to comprehensively characterize gene fusions in long-read cancer transcriptome data and reconstruct accurate fused transcripts from raw reads. FusionSeeker identified gene fusions in both exonic and intronic regions, allowing comprehensive characterization of gene fusions in cancer transcriptomes. Fused transcript sequences were reconstructed with FusionSeeker by correcting sequencing errors in the raw reads through partial order alignment algorithm. Using these accurate transcript sequences, FusionSeeker refined gene fusion breakpoint positions and predicted breakpoints at single bp resolution. Overall, FusionSeeker will enable users to discover gene fusions accurately using long-read data, which can facilitate downstream functional analysis as well as improved cancer diagnosis and treatment. SIGNIFICANCE: FusionSeeker is a new method to discover gene fusions and reconstruct fused transcript sequences in long-read cancer transcriptome sequencing data to help identify novel gene fusions important for tumorigenesis and progression.

Indexed as

NeoplasmsTranscriptomeGene Expression ProfilingGene FusionHigh-Throughput Nucleotide SequencingHumansSequence Analysis, RNA

Identifiers

PMID36318117
PMCPMC9812290
OpenAlexW4307788567

What OpenQuestion holds

Textmetadata
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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.