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Updated: Feb 13, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

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DRAGENを使用してスケーラブルで包括的なモザイク変数呼び出しを使用しています

Sairam Behera, Massimiliano Rossi, Yina Wang

    medRxiv : the preprint server for health sciences
    |February 12, 2026
    PubMed
    まとめ

    低変異アレル分数 (VAF) モザイク変異の検出は,DRAGENモザイクコールで実現可能になりました. このハードウェア加速ツールは,正確な検出のために1時間スケールの実行時間を達成し,モザイク変異に関する新しい洞察を可能にします.

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