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

Genome Biology · 2019 · Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML · Peer-reviewed

DOI: 10.1186/s13059-019-1842-9

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Claims

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  • method_description: rna-fusion-20261009-method-arriba: Method description Arriba extracts gene fusions from the chimeric alignments reported by STAR [ 18 ] by applying a collection of filters which recognize frequent types of artifacts found in RNA-Seq data. (Table 1, row 'Arriba', column 'Brief overview of methodology')
  • method_description: rna-fusion-20261009-method-ericscript: Method description BWA [ 26 ] is used to align reads to the genome. Discordant reads are used to identify candidate gene fusions. BLAT [ 27 ] is then used in an iterative local alignment step to define precise fusion breakpoints by aligning to customized targets of fused exons. An AdaBoost classifier trained with synthetic data is used to score and rank fusion predictions. (Table 1, row 'EricScript', column 'Brief overview of methodology')
  • method_description: rna-fusion-20261009-method-star-fusion: Method description Uses chimeric read alignments reported by STAR in its Chimeric.out.junction file to identify candidate fusions followed by extensive filtering of likely artifacts. (Table 1, row 'STAR-Fusion', column 'Brief overview of methodology')
  • reported_ranking: rna-fusion-20261009-method-ericscript: Reported ranking In contrast to an earlier assessment of fusion prediction accuracy that found EricScript to be top-ranking [ 16 ], in our assessment, EricScript was the least accurate method on cancer cell line RNA-seq, suffering mostly from a high rate of false positives. (Discussion paragraph 2, sentence 5)
  • reported_ranking: rna-fusion-20261009-method-star-fusion: Reported ranking In particular, STAR-Fusion, Arriba, and STAR-SEQR had the best combination of speed and accuracy compared to 19 other methods evaluated on cancer transcriptome data. (Discussion paragraph 2, sentence 1)

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28 evidence rows matching the loaded filters

Claims, original sources and review scope · Release 2026-10-22-1b7cf027e4f6
Property and statementOriginal source and locationReview and provenance
attributes.artifact_sha256
9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.artifact_sha256

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Artifact url
https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6802306/fullTextXML
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.artifact_url

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Doi
10.1186/s13059-019-1842-9
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.doi

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Licence
CC-BY-4.0
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.licence

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Media type
application/xml
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.media_type

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Publication status
peer_reviewed
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.publication_status

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Retrieved at
2026-10-12T20:53:32Z
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.retrieved_at

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

attributes.review.artifact_sha256
9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.review.artifact_sha256

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Review: date
2026-10-12
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.review.date

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

Review method
1 values
  • source-hash-verification
Source metadata
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Original source ↗

No field-specific location recorded

Version: Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
Retrieved: 2026-10-12T20:53:32Z

catalogued

No individual claim review recorded

Audit details

Field: attributes.review.method

Source artifact SHA-256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108

Hash scope: Hash scope not separately documented; inspect source record

Inspected artifact

How to read the evidence

Sources and history

Release 2026-10-22-1b7cf027e4f6 · Record review: source checked

Primary source retrieved and hashed for the 2026-10-12 ML-versus-baseline pass.

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Technical metadata and extraction receipts

Stable ID: rna-fusion-20261012-haas2019-source

areas
rna-transcriptomes
contexts
research
url
https://doi.org/10.1186/s13059-019-1842-9
artifact url
https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6802306/fullTextXML
version
Genome Biology 20:213, published 2019-10-21; PMC6802306 full-text XML
retrieved at
2026-10-12T20:53:32Z
artifact sha256
9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108
doi
10.1186/s13059-019-1842-9
publication status
peer_reviewed
licence
CC-BY-4.0
media type
application/xml
venue
Genome Biology
year
2019
source locator
Licence statement in the article XML <license> element: Creative Commons Attribution 4.0
scope decision
No results extracted: per-method accuracy (P-R AUC, TPR and PPV at maximum F1, leaderboard rankings) is shown only in Figures 1b, 2a, 4a, 4c, 4d and Additional file 2 Figures S3, S5, S8 and S9. Additional file 1 holds per-fusion predictions, not accuracy values, and the FusionBenchmarking repository holds code, not result tables.
review
method: source-hash-verification; reviewer: claude; reviewer note: Separate Claude review agent (rev-mlvb), independent of the extracting agent; no human review claimed; date: 2026-10-12; artifact sha256: 9828428800fb119b30742d6f6f0b1aabf4b8cd34bd889768c462ca440cd65108; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6802306/fullTextXML; note: Re-downloaded the Europe PMC full-text XML and matched its SHA-256.
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