Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm

The increasing scope of genetic testing allowed by next-generation sequencing (NGS) dramatically increased the number of genetic variants to be interpreted as pathogenic or benign for adequate patient management. Still, the interpretation process often fails to deliver a clear classification, result...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Favalli, Valentina, Tini, Giulia, Bonetti, Emanuele, Vozza, Gianluca, Guida, Alessandro, Gandini, Sara, Pelicci, Pier Giuseppe, Mazzarella, Luca
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8059374/
https://ncbi.nlm.nih.gov/pubmed/33761318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.03.010
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