{
  "abstract": "Background\n\nFusion genes serve as crucial biomarkers for cancer diagnosis, prognosis, and therapy, yet many detection tools lead to high false-positive rates and poor consensus. We developed RIFTT, a pipeline for Robust Identification of Fusion genes in Tumor Transcriptomes which integrates Arriba and FusionCatcher, two state-of-the-art fusion callers, together with novel scoring metrics (Promiscuity Score, Fusion Transcript Score, and Robustness Score).Results\n\nBenchmarking on TCGA-LAML, BeatAML, and LL-100 datasets demonstrated RIFTT's ability to reduce the number of candidates by up to 95% compared to single callers. At the same time, it preserves high-confidence events, outperforming both the nf-core/rnafusion pipeline and an Arriba/FusionCatcher consensus approach. RIFTT also identified novel high-evidence candidates, including a previously unreported recurrent fusion in acute myeloid leukemia.Conclusion\n\nPackaged in a Singularity container for ease of use across computing environments, RIFTT provides standardized visual and annotated tabular outputs to support downstream analysis in research workflows and clinical molecular diagnostics. RIFTT is freely available at https://github.com/pkerbs/RIFTT .",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medicine III, LMU University Hospital, LMU Medizin, Ludwig- Maximilians-Universität München, Munich, Germany.",
    "German Cancer Consortium (DKTK), partner site Munich, a partnership between DKFZ and LMU University Hospital Munich (LMU Klinikum), Munich, Germany.",
    "Department of Medical Data Processing, Biometry and Epidemiology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München, Munich, Germany.",
    "Department of Radiation Oncology, LMU University Hospital, LMU Medizin, Ludwig- Maximilians-Universität München, Munich, Germany.",
    "Bavarian Center for Cancer Research (BZKF), Partner Site Munich, Munich, Germany.",
    "Department of Medicine III, LMU University Hospital, LMU Medizin, Ludwig- Maximilians-Universität München, Munich, Germany. sebastian.vosberg@med.uni-muenchen.de.",
    "German Cancer Consortium (DKTK), partner site Munich, a partnership between DKFZ and LMU University Hospital Munich (LMU Klinikum), Munich, Germany. sebastian.vosberg@med.uni-muenchen.de."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Paul Kerbs"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Lisa Latzko"
    },
    {
      "affs": [
        2
      ],
      "name": "Ulrich Mansmann"
    },
    {
      "affs": [
        1,
        3,
        4
      ],
      "name": "Kristian Unger"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Philipp A Greif"
    },
    {
      "affs": [
        5,
        6
      ],
      "name": "Sebastian Vosberg"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2tphs2wv0m4mv.bib",
  "cited_by": 0,
  "doi": "10.1186/s12859-026-06725-4",
  "fulltext_url": "https://europepmc.org/articles/PMC13729477",
  "id": "2tphs2wv0m4mv",
  "issns": [
    "1471-2105"
  ],
  "landing_url": "https://europepmc.org/article/MED/42972257",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Software"
    ],
    [
      "openalex",
      "1306|Cancer Genomics and Diagnostics"
    ]
  ],
  "openalex": "W7224935548",
  "pdf_url": "https://europepmc.org/articles/PMC13729477?pdf=render",
  "pmcid": "PMC13729477",
  "pmid": "42972257",
  "published": "2026-10-30",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/2tphs2wv0m4mv.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:47Z",
      "native_id": "MED:42972257",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42972257"
    },
    {
      "first_seen": "2026-11-07T12:22:13Z",
      "native_id": "PMC13729477",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s12859-026-06725-4"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:1306|Cancer Genomics and Diagnostics",
      "subfield": "oncology"
    }
  ],
  "title": "RIFTT: Robust Identification of Fusion genes in Tumor Transcriptomes.",
  "title_text": "RIFTT: Robust Identification of Fusion genes in Tumor Transcriptomes.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:22:13Z",
  "url": "https://research.draconitic.com/paper/2tphs2wv0m4mv",
  "venue": "BMC bioinformatics",
  "versions": []
}