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Genome interpretation using in silico predictors of variant impact

Estimating the effects of variants found in disease driver genes opens the door to personalized therapeutic opportunities. Clinical associations and laboratory experiments can only characterize a tiny fraction of all the available variants, leaving the majority as variants of unknown significance (V...

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Detalles Bibliográficos
Autores principales: Katsonis, Panagiotis, Wilhelm, Kevin, Williams, Amanda, Lichtarge, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055222/
https://www.ncbi.nlm.nih.gov/pubmed/35488922
http://dx.doi.org/10.1007/s00439-022-02457-6