A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Despite an explosive growth of next‐generation sequencing data, genome diagnostics only provides a molecular diagnosis to a minority of patients. Software tools that prioritize genes based on patient symptoms using known gene‐disease associations may complement variant filtering and interpretation t...

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Detalles Bibliográficos
Autores principales: van der Velde, K. Joeri, van den Hoek, Sander, van Dijk, Freerk, Hendriksen, Dennis, van Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744518/
https://www.ncbi.nlm.nih.gov/pubmed/36619248
http://dx.doi.org/10.1002/ggn2.10023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744518/
https://www.ncbi.nlm.nih.gov/pubmed/36619248
http://dx.doi.org/10.1002/ggn2.10023

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