gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical settings, the practice of diagnostic medicine is undergoing a notable shift. However, the move from single-gene or panel-based genetic testing to exome and ge...

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Dades bibliogràfiques
Publicat a:medRxiv
Autors principals: Di Sera, Tonya, Velinder, Matt, Ward, Alistair, Qiao, Yi, Georges, Stephanie, Miller, Chase, Pitman, Anders, Richards, Will, Ekawade, Aditya, Viskochil, David, Carey, John C, Pace, Laura, Bale, Jim, Clardy, Stacey L, Andrews, Ashley, Botto, Lorenzo, Marth, Gabor
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory 2020
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7654889/
https://ncbi.nlm.nih.gov/pubmed/33173897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/2020.11.05.20224865
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