Evidence map›Paper›PMID 31639029›Full record

ArticleGenome biology2019

Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods.

Brian J Haas, Alexander Dobin, Bo Li, Nicolas Stransky, Nathalie Pochet, Aviv Regev

Abstract readEvaluation Study
In one paragraph

Article in Genome biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 383 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
383citing papers in PubMed, 1 pooled it
–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

383 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Abundant CD8British journal of cancer · 2026
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  17. PFGPred: a stack ensemble classifier for the identification of fusion genes in plants.DNA research : an international journal for rapid publication of reports on genes and genomes · 2026
    Article
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323 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

6 authors.

Brian J HaasBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. bhaas@broadinstitute.org.ORCID 0000-0002-6609-4973
Alexander DobinCold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA.
Bo LiBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Nicolas StranskyCelsius Therapeutics, Cambridge, MA, 02139, USA.
Nathalie PochetBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Aviv RegevBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.

Funding

Single-Cell Biology Shared ResourceP30CA045508 · NCI · COLD SPRING HARBOR LABORATORY · PI John Edward Moses · 1987 to 2026
$118.9M
Trinity: Transcriptome assembly for genetic and functional analysis of cancerU24CA180922 · NCI · BROAD INSTITUTE, INC. · PI HAAS, BRIAN · 2013 to 2022
$7.5M
Novel algorithm development, user support and maintenance for STARR01HG009318 · NHGRI · COLD SPRING HARBOR LABORATORY · PI DOBIN, ALEXANDER · 2017 to 2021
$2.4M
Open Software and Resource Development Leveraging Next-gen Sequencing Data to Facilitate Computational Analysis of Cancer BiologyR50CA211461 · NCI · BROAD INSTITUTE, INC. · PI HAAS, BRIAN · 2016 to 2020
$1.7M
Accelerating Cancer Genomics with Cloud-scale BioconductorU01CA214846 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI CAREY, VINCENT JAMES · 2017 to 2019
$1.3M
Integrative genomic framework for dissecting regulatory mechanisms underlying hepatocellular carcinomaR21CA209940 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI POCHET, NATHALIE · 2017 to 2018
$402k
Spatial and temporal profiling to unravel the host cell responses to hepatitis B virus infectionR03AI131066 · NIAID · BRIGHAM AND WOMEN'S HOSPITAL · PI POCHET, NATHALIE · 2018 to 2019
$181k
NCI NIH HHS P30 CA045508NCI NIH HHS R21 CA209940NCI NIH HHS R21CA209940NCI NIH HHS R50 CA211461NCI NIH HHS R50CA211461NCI NIH HHS U01 CA214846NCI NIH HHS U01CA214846NCI NIH HHS U24 CA180922NCI NIH HHS U24CA180922NHGRI NIH HHS R01 HG009318NIAID NIH HHS R03 AI131066
6 · The paper itself

Abstract

backgroundAccurate fusion transcript detection is essential for comprehensive characterization of cancer transcriptomes. Over the last decade, multiple bioinformatic tools have been developed to predict fusions from RNA-seq, based on either read mapping or de novo fusion transcript assembly.

resultsWe benchmark 23 different methods including applications we develop, STAR-Fusion and TrinityFusion, leveraging both simulated and real RNA-seq. Overall, STAR-Fusion, Arriba, and STAR-SEQR are the most accurate and fastest for fusion detection on cancer transcriptomes.

conclusionThe lower accuracy of de novo assembly-based methods notwithstanding, they are useful for reconstructing fusion isoforms and tumor viruses, both of which are important in cancer research.

Indexed as

Gene FusionSoftwareTranscriptomeBenchmarkingGenomicsNeoplasmsSequence Analysis, RNABenchmarkingCancerFusionRNA-seqSTAR-FusionTrinityFusion

Identifiers

PMID31639029
PMCPMC6802306

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.