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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Détails bibliographiques
Publié dans:medRxiv
Auteurs principaux: 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
Langue:Inglês
Publié: Cold Spring Harbor Laboratory 2020
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Article
Accès en ligne: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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