Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
|
| Materias: | |
| 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 |