遇见数据集

INDELVAR: Structure-based interpretation of in-frame indel pathogenicity

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Zenodo2026-07-10 更新2026-08-02 收录
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Precomputed INDELVAR scores for 209,211,495 possible 1–10 amino-acid in-frame deletions and insertions across 19,053 MANE Select protein-coding genes. INDELVAR returns a 0–1 pathogenicity score mapped to indel-type-specific ACMG/AMP PP3/BP4 computational evidence strata using the ClinGen SVI calibration framework. Insertions reach a provisional strong pathogenic tier (+4) and strong benign evidence (−4); deletions reach moderate pathogenic evidence (+3) and strong benign evidence (−4). Repository: https://github.com/eunhui-ji/INDELVAR

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Zenodo
创建时间:
2026-07-10
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