Next-generation sequencing is being implemented in the clinical laboratory environment for the purposes of candidate causal variant discovery in patients affected with a variety of genetic disorders. The successful implementation of this technology for diagnosing genetic…
Web app
G T A T C G C T A gNOME gNOME

gNOME

A fast and highly scalable annotation, filtering, and analysis pipeline to…

A fast and highly scalable annotation, filtering, and analysis pipeline to prioritize phenotype-associated variants while minimizing false-positive findings.

Web app
G T A T C G C T A VarElect VarElect

VarElect

A free web-based phenotype-dependent NGS variant prioritizer, which leverages…

A free web-based phenotype-dependent NGS variant prioritizer, which leverages the wealth of information in GeneCards and its affiliated databases. VarElect employs GeneCards’ powerful search and…

Web app
G T A T C G C T A database.bio database.bio

database.bio

Delivers genomic insights into genetics research and everyday medical practice…

Delivers genomic insights into genetics research and everyday medical practice through a flexible, robust and secure web application. database.bio combines variant annotation, prioritization, and…

Desktop app
G T A T C G C T A Mutation Arranger for… Mutation Arranger for defining Phenotype-related…

MAP Mutation Arranger for defining Phenotype-related SNV

A user-friendly program with multiple functions that supports the determination…

A user-friendly program with multiple functions that supports the determination of recurrent or phenotype-specific mutations and provides graphic illustration images to the users. Its operation…

Desktop app
G T A T C G C T A Wisconsin… Wisconsin Hierarchical Analysis Tool for…

WHATIF Wisconsin Hierarchical Analysis Tool for Incidental Findings

A standalone Windows-based desktop executable, to support the interactive…

A standalone Windows-based desktop executable, to support the interactive analysis of incidental findings in the context of the ACMG recommendations. WHATIF integrates the European Bioinformatics…

Desktop app
G T A T C G C T A VariantStudio VariantStudio

VariantStudio

Enables researchers to quickly identify and classify disease-relevant variants,…

Enables researchers to quickly identify and classify disease-relevant variants, and then communicate significant findings in a structured report. A powerful variant analysis and reporting tool,…

Web app
G T A T C G C T A Mutation Annotation… Mutation Annotation and Genomic Interpretation

MAGI Mutation Annotation and Genomic Interpretation

A tool for annotating, exploring, and analyzing gene sets that may be…

A tool for annotating, exploring, and analyzing gene sets that may be associated with cancer.

Desktop app
G T A T C G C T A Alamut Visual Alamut Visual

Alamut Visual

A decision-support software and client server application that integrates…

A decision-support software and client server application that integrates genetic and genomic information from different sources into one consistent and convenient environment to describe variants…

Desktop app
G T A T C G C T A CanvasDB CanvasDB

CanvasDB

An infrastructure for management and analysis of genetic variants from…

An infrastructure for management and analysis of genetic variants from massively parallel sequencing (MPS) projects. The system stores SNP and indel calls in a local database, designed to handle very…

Desktop app
G T A T C G C T A Ingenuity Variant… Ingenuity Variant Analysis

Ingenuity Variant Analysis

Identify causal variants from human sequencing data.

Identify causal variants from human sequencing data.

G T A T C G C T A Opal Research Opal Research

Opal Research

A SaaS platform that integrates a comprehensive, automated genome annotation…

A SaaS platform that integrates a comprehensive, automated genome annotation engine with the VAAST variant prioritization tool to rank gene variants on the severity of their impact on protein…

Web app
G T A T C G C T A Phevor Phevor

Phevor

Accurately re-prioritizes potentially damaging alleles identified by variant…

Accurately re-prioritizes potentially damaging alleles identified by variant prioritization tools by integrating gene function, phenotype, and disease info.

Web app
G T A T C G C T A Variation Reporter Variation Reporter

Variation Reporter

Helps interpret variations, whether identified in one individual, in one gene…

Helps interpret variations, whether identified in one individual, in one gene or from a large resequencing project. You may query our data using your variant calls in a variety of formats. We will…

Desktop app
SNP & Variation… SNP & Variation Suite

SNP & Variation Suite

An integrated collection of user-friendly, yet powerful analytic tools for…

An integrated collection of user-friendly, yet powerful analytic tools for managing, analyzing, and visualizing multifaceted genomic and phenotypic data.

Desktop app
G T A T C G C T A Geneticist Assistant Geneticist Assistant

Geneticist Assistant

A unique tool for the management, control, visualization, functional…

A unique tool for the management, control, visualization, functional interpretation and historical knowledge base of next generation sequencing whole exome data or targeted at specific genes for the…

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