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Updated: Feb 13, 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

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cuteHap: ハップロタイプ認識構造変異検出 段階的長読シーケンシングデータにおける構造変異検出

Shuqi Cao1,2, Yadong Liu1,2,3, Miao Cui1,2

  • 1Center for Bioinformatics, Faculty of Computing, Harbin Institute of Technology, Harbin, Heilongjiang, China.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
|February 12, 2026
PubMed
まとめ

CuteHapは,段階的なロングリードシーケンシングデータを用いて構造変異 (SV) の検出を改善しています. このハプロタイプ認識法により,精度が向上し,多様な低頻度SVを特定し,ゲノム研究を進めます.

キーワード:
ゲノム解析ゲノム解析についてhaplotype-aware は,ハプロタイプを認識している.ロングリードシーケンシング (Long-Read Sequencing) とは段階的な段階化は,ソマティック・モザイシズム構造的変化 構造的変化変種呼び出し変種呼び出しです.

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