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Updated: Jan 30, 2026

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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ヒトゲノムの主要な構造変異アレルの特徴

Peter A Audano1, Arvis Sulovari1, Tina A Graves-Lindsay2

  • 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

Cell
|January 22, 2019
PubMed
まとめ

この研究は,9,000以上の構造変異 (SV) を解明した15のヒトゲノムの長読配列データを生成した. これらの発見は,ヒトの遺伝的多様性に関する包括的なリソースを提供し,機能的な多様性の解釈を改善します.

キーワード:
隙間を閉じる人間の参照ゲノムメジャーアレルリアルタイムシーケンシング (SMRT)単一分子構造的な変化全ゲノム配列と組み立て

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