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

Disease targeted sequencing is gaining importance as a powerful and cost-effective application of high throughput sequencing technologies to the diagnosis. However, the lack of proper tools to process the data hinders its extensive adoption.Source…
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myVCF
Desktop

myVCF

Permits to manage and browse VCF files in an efficient and easy way. myVCF is…

Permits to manage and browse VCF files in an efficient and easy way. myVCF is simple to use, offers a graphical interface, allowing the use by non-experts on almost every platform, and export the…

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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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SEXCMD
Desktop

SEXCMD

Identify sex-specific marker sequences. SEXCMD allows users to (i) design…

Identify sex-specific marker sequences. SEXCMD allows users to (i) design sex-specific marker sequences, (ii) train using a known dataset, and (iii) make an optimal sex marker sequence selection. The…

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Phenotip
Dataset

Phenotip

A searchable database of fetal syndromes. The Phenotip database relies on a…

A searchable database of fetal syndromes. The Phenotip database relies on a hierarchically structured tree of antenatal sonographic marker. Parent markers are organized by organ system and grow in…

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TEAM
Web

TEAM

An intuitive and easy-to-use web tool that fills the gap between the predicted…

An intuitive and easy-to-use web tool that fills the gap between the predicted mutations and the final diagnostic in targeted enrichment sequencing analysis.

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RETA
Desktop

RETA

Provides a one-stop analysis of these data and a comprehensive, interactive and…

Provides a one-stop analysis of these data and a comprehensive, interactive and easy-to-understand report with many advanced visualization features. RETA is an R package that includes various…

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BioGranat-IG
Desktop

BioGranat-IG BioGranat Individuals-Grouping

A BioGranat plugin for the analysis of exome-sequencing data with the aim of…

A BioGranat plugin for the analysis of exome-sequencing data with the aim of identifying groups of genes in biological networks collectively responsible for causing a disease through genetic…

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ClinLabGenetici…
Desktop

ClinLabGeneticist

A tool to assist geneticist for diagnosis of pathogenic variants from whole…

A tool to assist geneticist for diagnosis of pathogenic variants from whole exome sequencing data. We established an extensive variant annotation data source for the identification of pathogenic…

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RDD
Web

RDD Rare Disease Discovery

A prototype rare disease DDX generator. RDD automatically predicts the most…

A prototype rare disease DDX generator. RDD automatically predicts the most likely rare diseases based on the known set of symptoms provided by the user. The goal of RDD is to estimate which are the…

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GeneYenta
Web

GeneYenta

Facilitates the matchmaking process, allowing clinicians to coordinate detailed…

Facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. GeneYenta is focused on phenotype annotation, with explicit limitations…

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PhenoTips
Desktop

PhenoTips

A deep phenotyping tool designed for collecting clinical symptoms and physical…

A deep phenotyping tool designed for collecting clinical symptoms and physical findings observed in patients. PhenoTips provides a series of features that help reduce the clinician’s workload…

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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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PhenUMA
Web

PhenUMA

An integrative framework for biomedical and biomolecular relationships among…

An integrative framework for biomedical and biomolecular relationships among genes and genetic diseases. PhenUMA allows to retrieve information related with a set of genes, diseases or phenotypes of…

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PhenoVar
Web

PhenoVar

A phenotype-driven analysis of encrypted exome data to facilitate the…

A phenotype-driven analysis of encrypted exome data to facilitate the widespread implementation of exome sequencing as a clinical genetic screening test. PhenoVar automatically prioritizes diagnoses…

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EVA
Web

EVA Exome Variation Analyzer

A web interfaced software developed for geneticist and dedicated to the…

A web interfaced software developed for geneticist and dedicated to the filtering strategies for medical projects investigated with exome sequencing.

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FindZebra
Web

FindZebra

A search engine for rare diseases, customised for diagnosis by clinicians in…

A search engine for rare diseases, customised for diagnosis by clinicians in terms of the selection of curated data resources. FindZebra ranks documents decreasingly by their estimated relevance to…

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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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AGX
Web

AGX ALAPY GENOME EXPLORER

Analyses multifactor genome data. AGX is a cloud-based service that can…

Analyses multifactor genome data. AGX is a cloud-based service that can calculate single vcf sample, compare tumour/normal samples and perform trio analysis. This online system permits to upload,…

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CGES
Desktop

CGES Consensus Genotyper for Exome Sequencing

Allows to identify variant sites and determine genotypes. CGES uses a two-stage…

Allows to identify variant sites and determine genotypes. CGES uses a two-stage voting scheme among four algorithm implementations and provides an approach to exome sequence variant calling. The CGES…

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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…

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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