Article

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

2021-04-14

Abstract excerpt

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 genome sequencing has not been matched by the development of tools to enable diagnosticians to interpret increasingly c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c1eed6f1-45d8-5145-a9e3-49d6f334d359
DOI: 10.21203/rs.3.rs-402434/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationDOI 10.21203/rs.3.rs-402434/v1Read

Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.Semantic proximity Read

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritizationSemantic proximity Read

genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene listsSemantic proximity Read

Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists.Semantic proximity Read

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretationSemantic proximity Read

VarXOmics: A Versatile Web Server for Genomic Data Querying, Analysis, and Variant Prioritization With Multi-omics Insights.Semantic proximity Read

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.Semantic proximity Read

ACVI-Med, an open source variant interpretation tool for medical genomics.Semantic proximity Read

Genomize-SEQ: An NGS data analysis platform for genomic variant classification and prioritizationSemantic proximity Read

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.Semantic proximity Read

WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.Semantic proximity Read

PanelAppRex aggregates disease gene panels and facilitates sophisticated searchSemantic proximity Read