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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Vydáno v:Comput Struct Biotechnol J
Hlavní autoři: Miressi, Federica, Faye, Pierre-Antoine, Pyromali, Ioanna, Bourthoumieux, Sylvie, Derouault, Paco, Husson, Marie, Favreau, Frédéric, Sturtz, Franck, Magdelaine, Corinne, Lia, Anne-Sophie
Médium: Artigo
Jazyk:Inglês
Vydáno: Research Network of Computational and Structural Biotechnology 2020
Témata:
Short Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7424167/
https://ncbi.nlm.nih.gov/pubmed/32832037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.csbj.2020.07.021
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