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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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RENOVO-NF1は,NF1ミセンスの変異の病原性を正確に予測する

Emanuele Bonetti1, Serena Pellegatta2, Nayma Rosati2

  • 1Laboratory of Translational Oncology, European Institute of Oncology IRCCS, Milan, Italy.

Human genomics
|August 31, 2025
PubMed
まとめ

新しい計算ツールであるRENOVO-NF1は,神経線維腫1型 (NF1) の変異を正確に解釈します. このツールは,変種情報が分類に最初には不十分であるときの診断上の課題を克服するのに役立ちます.

キーワード:
機械学習神経繊維症VUS について解釈の変形

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