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

BACKGROUND: Detection of copy number variations (CNVs) from high-throughput next-generation whole-genome sequencing (WGS) data has become a widely used research method during the recent years. However, only a little is known about the applicability of the developed algorithms to ultra-low-coverage (...

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Pubblicato in:BMC Genomics
Autori principali: Smolander, Johannes, Khan, Sofia, Singaravelu, Kalaimathy, Kauko, Leni, Lund, Riikka J., Laiho, Asta, Elo, Laura L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8130438/
https://ncbi.nlm.nih.gov/pubmed/34000988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-021-07686-z
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