iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification

The rapid evolution of Next Generation Sequencing in clinical settings, and the resulting challenge of variant reinterpretation given the constantly updated information, require robust data management systems and organized approaches. In this paper, we present iVar: a freely available and highly cus...

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Detalles Bibliográficos
Autores principales: Castellano, Sara, Cestari, Federica, Faglioni, Giovanni, Tenedini, Elena, Marino, Marco, Artuso, Lucia, Manfredini, Rossella, Luppi, Mario, Trenti, Tommaso, Tagliafico, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8001268/
https://www.ncbi.nlm.nih.gov/pubmed/33800487
http://dx.doi.org/10.3390/genes12030384

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8001268/
https://www.ncbi.nlm.nih.gov/pubmed/33800487
http://dx.doi.org/10.3390/genes12030384

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