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ASVBM: Structural variant benchmarking with local joint analysis for multiple callsets

Accurate benchmarking of structural variant (SV) detection is essential for advancing the development and application of human whole-genome sequencing (WGS). A fundamental challenge in benchmarking SV detection results is determining whether two SVs represent the same event. Differences in the varia...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Peizheng Mu, Xiangyan Feng, Lanxin Tong, Jie Huang, Chaoqun Zhu, Fei Wang, Wei Quan, Yuanjun Ma, Yucui Dong, Xiao Zhu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2025-01-01
Schriftenreihe:Computational and Structural Biotechnology Journal
Schlagworte:
SV benchmarking
SV matching
Joint analysis
Structural variant
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2001037025002612
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