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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Vydáno v:medRxiv
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory 2020
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Article
On-line přístup: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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