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Updated: Feb 13, 2026

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エクソームシーケンシングによる変異分析は,発達障害の診断成果を最適化するための効果的なアプローチである - DDD-Africaの研究

Nadja Louw, Prince Makay, Phelelani T Mpangase

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

    複製数変異 (CNV) 分析をDDD-Africaコホートにおけるエクソメシーケンシング (ES) に統合することで,診断収量は8.3%増加しました. この費用対効果の高いアプローチは,資源が限られた環境で発達障害の診断に不可欠です.

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