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Updated: Feb 15, 2026

An Analytical Tool-box for Comprehensive Biochemical, Structural and Transcriptome Evaluation of Oral Biofilms Mediated by Mutans Streptococci
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ACMG/AMPベースの変種分類ツールの包括的な評価

Tohid Ghasemnejad1, Yuheng Liang1, Khadijeh Hoda Jahanian2

  • 1UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia.

Bioinformatics (Oxford, England)
|February 13, 2026
PubMed
まとめ

本研究では,メンデルの疾患におけるACMG/AMPの変異解釈ツールを比較しています. LIRICALやFranklinのようなフェノタイプ主導のツールは,変数の優先順位付けにおいて優れた精度を示しています.

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