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…
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GeneTalk
Web

GeneTalk

A web-based tool, knowledgebase and community for analysis and interpretation…

A web-based tool, knowledgebase and community for analysis and interpretation of human variant files. GeneTalk provides an intuitive web-based interface for geneticists that analyze human sequence…

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gNOME
Web

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.

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database.bio
Web

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…

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MAP
Desktop

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…

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WHATIF
Desktop

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…

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VariantStudio
Desktop

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,…

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MAGI
Web

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.

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Alamut Visual
Desktop

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…

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CanvasDB
Desktop

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…

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Ingenuity…
Desktop

Ingenuity Variant Analysis

Identify causal variants from human sequencing data.

Identify causal variants from human sequencing data.

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Opal Research
Cloud

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…

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Phevor
Web

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.

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Variation…
Web

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…

SNP &…
Desktop

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.

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VarElect
Web

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…

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Geneticist…
Desktop

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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