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Updated: Sep 10, 2025

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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構造変数呼び出しのヒッチハイクガイド:異なるシーケンシング技術による包括的なベンチマーク

Giuseppe Giovanni Nardone1, Valentina Andrioletti2, Aurora Santin1,3

  • 1Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.

Biomedicines
|August 28, 2025
PubMed
まとめ

正しいアライメントソフトウェアの選択は,全ゲノムシーケンシング (WGS) の構造変異 (SV) 検出精度に大きな影響を与えます. 性能は短読 (srWGS) と長読 (lrWGS) 技術の間で変化しており,標準化された方法の必要性を強調しています.

キーワード:
基準値最高の実践長い読書構造的な変形変数呼び出し全ゲノムシーケンシング

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