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

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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Bibliographic Details
Main Authors: Sara Castellano, Federica Cestari, Giovanni Faglioni, Elena Tenedini, Marco Marino, Lucia Artuso, Rossella Manfredini, Mario Luppi, Tommaso Trenti, Enrico Tagliafico
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Genes
Subjects:
next-generation sequencing
database
variant annotation
variant classification
data management
clinical genomics
Online Access:https://www.mdpi.com/2073-4425/12/3/384

Internet

https://www.mdpi.com/2073-4425/12/3/384

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