Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.

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作者： Johannes,Smolander ^[1] ; Sofia,Khan ^[1] ; Kalaimathy,Singaravelu ^[1] ; Leni,Kauko ^[1] ; Riikka J,Lund ^[1] ; Asta,Laiho ^[1] ; Laura L,Elo ^[2]

作者单位： Turku Bioscience Centre, University of Turku and Åbo Akademi University, 20520, Turku, Finland. ^[1] Turku Bioscience Centre, University of Turku and Åbo Akademi University, 20520, Turku, Finland. laura.elo@utu.fi.;Institute of Biomedicine, University of Turku, 20520, Turku, Finland. laura.elo@utu.fi. ^[2]

关键词 Copy number variation Human embryonic stem cell Ultra-low-coverage Whole-genome sequencing

主题词算法(Algorithms);DNA拷贝数变异(DNA Copy Number Variations);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing)

DOI 10.1186/s12864-021-07686-z

PMID 34000988

发布时间 2024-08-10

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