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Decision-support software tools | Whole-genome sequencing data analysis

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…
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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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GenomeComb
Desktop

GenomeComb

Permits analysis of complete genome data. GenomeComb can serve as annotation…

Permits analysis of complete genome data. GenomeComb can serve as annotation tool and is able to filter the results of complete genome sequencing. It was used to analyse the whole genome sequences of…

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Mendel,MD
Web
Desktop

Mendel,MD

Organizes, annotates, filters and diagnoses patients with Mendelian Disorders…

Organizes, annotates, filters and diagnoses patients with Mendelian Disorders using Exome and Genome sequencing data or experimental validation and possible diagnosis. Mendel,MD combines several…

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PathOS
Desktop

PathOS

Offers a solution for hospital to use and secure storage of patient medical…

Offers a solution for hospital to use and secure storage of patient medical data. PathOS currently supports a number of commercial assays and custom panels for a variety of tumour streams. It aims to…

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Clinical NGS DB
Desktop

Clinical NGS DB Clinical Next‐Generation Sequencing Database

Allows efficient clinical Next Generation Sequencing (NGS) analysis of…

Allows efficient clinical Next Generation Sequencing (NGS) analysis of inherited diseases through the collection of data. Clinical NGS DB contains a database that offers a two-featured approach to…

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GeneInsight…
Web

GeneInsight Suite

Offers a laboratory/knowledge management system. GeneInsight Suite is composed…

Offers a laboratory/knowledge management system. GeneInsight Suite is composed of GeneInsight (GI) Lab and GeneInsight Clinic. It enables organizations using GI Lab to communicate with organizations…

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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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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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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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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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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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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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NanoPlot
Desktop

NanoPlot

Extracts data for Oxford Nanopore sequencing data and alignments. NanoPlot…

Extracts data for Oxford Nanopore sequencing data and alignments. NanoPlot creates, for each work, a NanoStats file including a summarize of key features of the dataset. It also creates various plots.

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MAGI
Web
Desktop

MAGI Mutation Annotation and Genomic Interpretation

Allows to annotate, explore, and analyze gene sets that may be associated with…

Allows to annotate, explore, and analyze gene sets that may be associated with cancer. MAGI supports interactive, bidirectional user interactions between public and private cancer genomics data sets…

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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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VarSeq
Web

VarSeq

Provides repeatable variant discovery and interpretation workflows for gene…

Provides repeatable variant discovery and interpretation workflows for gene panels, whole exomes, and whole genomes. VarSeq is a filtering and annotation engine which allows to sift through large…

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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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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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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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Ingenuity…
Web

Ingenuity Variant Analysis

Identifies causal variants from human sequencing data. Ingenuity Variant…

Identifies causal variants from human sequencing data. Ingenuity Variant Analysis is a web-based application that combines analytical tools and integrated genomics content with user panel, exome, or…

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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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Opal Research
Desktop

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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