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UMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries

MOTIVATION: With Next Generation Sequencing becoming more affordable every year, NGS technologies asserted themselves as the fastest and most reliable way to detect Single Nucleotide Variants (SNV) and Copy Number Variations (CNV) in cancer patients. These technologies can be used to sequence DNA at...

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Detalles Bibliográficos
Autores principales: Sater, Vincent, Viailly, Pierre-Julien, Lecroq, Thierry, Ruminy, Philippe, Bérard, Caroline, Prieur-Gaston, Élise, Jardin, Fabrice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484502/
https://www.ncbi.nlm.nih.gov/pubmed/32952940
http://dx.doi.org/10.1016/j.csbj.2020.08.011