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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...

詳細記述

保存先:
書誌詳細
出版年:medRxiv
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory 2020
主題:
オンライン・アクセス: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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