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Updated: Sep 8, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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コミュニティ主導の複製数変異の発見:希少疾患ゲノムハッカソンの結果

Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson

    medRxiv : the preprint server for health sciences
    |August 20, 2025
    PubMed
    まとめ

    拡張可能な複製数変異 (CNV) 分析のワークフローは,まれな疾患の診断を加速するために開発されました. これらの方法は,短読ゲノムシーケンシングデータからCNVを効率的に検出し,解釈し,病気の遺伝的原因を特定するのに役立ちます.

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