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Updated: May 7, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

人口スケールシーケンシングによるヒトゲノム変異の地図

, Gonçalo R Abecasis, David Altshuler

    Nature
    |October 29, 2010
    PubMed
    まとめ

    1000ゲノムプロジェクトの試験段階では,何百万ものヒトの遺伝子変異をカタログ化し,一般的な変異の95%以上を明らかにしました. このデータセットは,ゲノタイプ-フェノタイプ研究を支援し,変異率を推定します.

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