{
  "abstract": "HBOCpred was developed to support research prioritisation of unresolved germline missense variants in a defined 17-gene study panel. Four calibrated learners provide vote states (V0–V4) and a continuous modified adaptive classifier score (SMAC). The same directional descriptors apply to labelled and unresolved records: unanimous benign/likely benign-directed (V0), mixed (V1–V3), and unanimous likely pathogenic/pathogenic-directed (V4) votes. Development used 2160 anchors and five repeats of nested five-fold cross-validation, with preprocessing fitted within training partitions. The annotation-completeness rule permitted evaluation of 2046 anchors per repeat. Mean balanced accuracy for the secondary ≥3-of-4 endpoint was 0.9604; mean SMAC area under the receiver operating characteristic curve (AUROC) and Brier score were 0.9909 and 0.0294. In the first repeat, unanimity covered 1968/2160 anchors (91.11%), with source-label agreement in 1920/1968 unanimous outputs (97.56%). Leave-one-gene-out AUROC was 0.9812 among 2045 evaluable anchors, with substantial gene-specific variation. Among 43,679 unresolved records, V0, V1–V3, and V4 contained 33,414, 4491 and 5774 variants, respectively. HBOCpred makes learner agreement and disagreement available for expert review and functional follow-up. Independent validation is needed to assess its performance and utility in unresolved variants.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medical Genetics, Ankara Etlik City Hospital, 06170 Ankara, Türkiye"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 2,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Mustafa Tarık Alay",
      "orcid": "0000-0002-1563-2292"
    },
    {
      "affs": [
        0
      ],
      "name": "Haktan Bağış Erdem",
      "orcid": "0000-0002-4391-1387"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cbp3y2mva1gnr.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27198865",
  "fulltext_url": null,
  "id": "cbp3y2mva1gnr",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/19/8865",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|BRCA gene mutations in cancer"
    ]
  ],
  "openalex": "W7220395674",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-05",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/cbp3y2mva1gnr.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:55Z",
      "native_id": "10.3390/ijms27198865",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/19/8865"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|BRCA gene mutations in cancer",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "HBOCpred: An Ensemble Framework for Prioritisation of Germline Missense Variants in Hereditary Breast and Ovarian Cancer",
  "title_text": "HBOCpred: An Ensemble Framework for Prioritisation of Germline Missense Variants in Hereditary Breast and Ovarian Cancer",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:18:55Z",
  "url": "https://research.draconitic.com/paper/cbp3y2mva1gnr",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}