A mutation can hide another one: Think Structural Variants!

Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Variants (SNVs) or small indels. Structural Variants (S...

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Detalles Bibliográficos
Autores principales: Miressi, Federica, Faye, Pierre-Antoine, Pyromali, Ioanna, Bourthoumieux, Sylvie, Derouault, Paco, Husson, Marie, Favreau, Frédéric, Sturtz, Franck, Magdelaine, Corinne, Lia, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424167/
https://www.ncbi.nlm.nih.gov/pubmed/32832037
http://dx.doi.org/10.1016/j.csbj.2020.07.021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424167/
https://www.ncbi.nlm.nih.gov/pubmed/32832037
http://dx.doi.org/10.1016/j.csbj.2020.07.021

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