A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

In order to properly interpret the results of a diagnostic gene panel sequencing test, gene coverage needs to be taken into consideration. If coverage is too low, an additional re-sequencing test is needed to make sure that a pathogenic variant is not missed. To facilitate the interpretation of cove...

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Detalles Bibliográficos
Autores principales: Gorokhov, Mark, Cerino, Mathieu, Mortreux, Jérémie, Riccardi, Florence, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Gorokhova, Svetlana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148332/
https://www.ncbi.nlm.nih.gov/pubmed/32277129
http://dx.doi.org/10.1038/s41598-020-63079-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148332/
https://www.ncbi.nlm.nih.gov/pubmed/32277129
http://dx.doi.org/10.1038/s41598-020-63079-4

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