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SNP/SNV annotation software tools | Whole-genome sequencing data analysis

The latest sequencing instruments in conjunction with SNP discovery tools can be used to identify huge numbers of putative SNPs. Whether the SNPs are discovered through genome or transcriptome sequencing the next problem after identification is…
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ANNOVAR
Desktop

ANNOVAR

An efficient software tool to utilize update-to-date information to…

An efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from diverse genomes (including human genome hg18, hg19, hg38, as well as mouse,…

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dbNSFP
Dataset

dbNSFP database for nonsynonymous SNPs' functional predictions

Provides a one-stop resource for functional predictions and annotations for…

Provides a one-stop resource for functional predictions and annotations for human nonsynonymous single-nucleotide variants (nsSNVs) and splice-site variants (ssSNVs), and facilitates the steps of…

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3DSNP
Dataset

3DSNP

A database for annotating human noncoding variants by exploring their roles in…

A database for annotating human noncoding variants by exploring their roles in the distal interactions between genes and regulatory elements. 3DSNP integrates 3D chromatin interactions, local…

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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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VAAST
Desktop

VAAST Variant Annotation, Analysis and Search Tool

Identifies damaged genes and their disease-causing variants in personal genome…

Identifies damaged genes and their disease-causing variants in personal genome sequences. VAAST combines elements of amino acid substitution (AAS) and aggregative approaches. The software can assay…

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SeattleSeq…
Web

SeattleSeq Annotation

Provides annotation of SNVs (single-nucleotide variations) and small indels,…

Provides annotation of SNVs (single-nucleotide variations) and small indels, both known and novel. This annotation includes dbSNP rs IDs, gene names and accession numbers, variation functions (e.g.…

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eXtasy
Desktop
Web

eXtasy

A pipeline for ranking nonsynonymous single nucleotide variants given a…

A pipeline for ranking nonsynonymous single nucleotide variants given a specific phenotype. eXtasy takes into account the putative deleteriousness of the variant, haploinsufficiency predictions of…

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TransVar
Web
Desktop

TransVar

Facilitates standardization and reveals inconsistency in existing variant…

Facilitates standardization and reveals inconsistency in existing variant annotations. TransVar is a variant annotator performing three main functions: (i) “forward annotation”, (ii) “reverse…

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SCAN
Web

SCAN SNP and CNV Annotation

A large-scale database of genetics and genomics data associated to a…

A large-scale database of genetics and genomics data associated to a web-interface and a set of methods and algorithms that can be used for mining the data in it. The database contains two categories…

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SNPnexus
Web

SNPnexus

Provides a comprehensive set of annotations for genomic variation data by…

Provides a comprehensive set of annotations for genomic variation data by characterizing related functional consequences at the transcriptome/proteome levels of seven major annotation systems with…

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Pyrotools
Desktop

Pyrotools

Represents the consensus sequences in a region of interest (ROI). Pyrotools is…

Represents the consensus sequences in a region of interest (ROI). Pyrotools is based on the graph technique that resembles the partial order graph or variant graph. It can model error patterns in the…

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PHAST
Web

PHAST PHAge Search Tool

A web server designed to rapidly and accurately identify, annotate and…

A web server designed to rapidly and accurately identify, annotate and graphically display prophage sequences within bacterial genomes or plasmids. PHAST accepts either raw DNA sequence data or…

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Phen-Gen
Desktop
Web

Phen-Gen

Combines patients' disease symptoms and sequencing data with prior domain…

Combines patients' disease symptoms and sequencing data with prior domain knowledge to identify the causative genes for rare disorders. Simulations revealed that the causal variant was ranked…

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SnpEff
Desktop
Web

SnpEff

Annotates and predicts the effects of single nucleotide polymorphisms (SNPs).…

Annotates and predicts the effects of single nucleotide polymorphisms (SNPs). SnpEff features include: (1) the ability to make thousands of predictions per second; (2) the ability to add custom…

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Vcfanno
Web

Vcfanno

Simplifies the annotation of genetic variants in VCF format. Vcfanno can…

Simplifies the annotation of genetic variants in VCF format. Vcfanno can extract and summarize multiple attributes from one or more annotation files and append the resulting annotations to the INFO…

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VariantAnnotati…
Desktop

VariantAnnotation

A package for the exploration and annotation of genetic variants.…

A package for the exploration and annotation of genetic variants. VariantAnnotation allows ready access to additional R/Bioconductor facilities for advanced statistical analysis, data transformation,…

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AVIA
Web

AVIA Annotation, Visualization, and Impact Analysis

While the functionality of AVIA v1.0, whose implementation was based on…

While the functionality of AVIA v1.0, whose implementation was based on ANNOVAR, was comparable to other annotation web servers, AVIA v2.0 represents an enhanced web-based server that extends genomic…

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Oncotator
Desktop
Web

Oncotator

A tool for annotating genomic point mutations and short nucleotide…

A tool for annotating genomic point mutations and short nucleotide insertions/deletions (indels) with variant- and gene-centric information relevant to cancer researchers. This information is drawn…

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SNPeffect
Dataset

SNPeffect

Provides information about phenotyping human single nucleotide polymorphisms…

Provides information about phenotyping human single nucleotide polymorphisms (SNPs). SNPeffect is a database that allows users to search SNVs by filtering on molecular phenotypic effects, mutation…

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topoSNP
Dataset

topoSNP

This site produces an interactive visualization of disease and non-disease…

This site produces an interactive visualization of disease and non-disease associated non-synonymous single nucleotide polymorphisms (nsSNPs) and displays geometric and relative entropy calculations.

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COPE-PCG
Web
Desktop

COPE-PCG Context-Oriented Predictor for variant Effect - Protein-Coding Genes

Predicts variant effects on protein-coding genes in a context-sensitive…

Predicts variant effects on protein-coding genes in a context-sensitive approach. COPE-PCG is part of COPE, a framework for predicting the effects of variants through a context-sensitive,…

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VarMatch
Desktop

VarMatch

Uses for the variant matching problem. VarMatch is able to detect more matches…

Uses for the variant matching problem. VarMatch is able to detect more matches than either the normalization or decomposition algorithms on tested datasets. It is robust to different representation…

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SoFIA
Desktop

SoFIA Software for Flexible Integration of Annotation

A framework for workflow-driven data integration with a focus on genomic…

A framework for workflow-driven data integration with a focus on genomic annotation. SoFIA conceptualises workflow templates as comprehensive workflows that cover as many data integration operations…

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BALL-SNPgp
Desktop

BALL-SNPgp

A tool for structural and functional characterization of non-synonymous single…

A tool for structural and functional characterization of non-synonymous single nucleotide variants (nsSNVs). BALL-SNPgp improves pathogenicity assessment in computational diagnostics. Based on…

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DI
Web
Desktop

DI Data Integrator

A fast and powerful graphical interface that can combine and export data from…

A fast and powerful graphical interface that can combine and export data from multiple tracks simultaneously. Like the Genome Browser and Table Browser, the Data Integrator can combine data from the…

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VariOtator
Web
Desktop

VariOtator

Allows users to make automatized annotations with VariO terms and helps with…

Allows users to make automatized annotations with VariO terms and helps with the task of variation annotation. VariOtator accepts variant descriptions according to the Human Genome Variation Society…

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wANNOVAR
Web

wANNOVAR

ANNOVAR is a rapid, efficient tool to annotate functional consequences of…

ANNOVAR is a rapid, efficient tool to annotate functional consequences of genetic variation from high-throughput sequencing data. wANNOVAR provides easy and intuitive web-based access to the most…

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SeqAnt
Web

SeqAnt Sequence Annotator

Simplifies variant annotation and filtering. SeqAnt can annotate sequencing…

Simplifies variant annotation and filtering. SeqAnt can annotate sequencing experiments on the scale of thousands of whole-genome samples and tens of millions of variants in a web browser, while also…

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SVA
Desktop

SVA Sequence Variant Analyzer

A computer software project designed to annotate, visualize, and analyze the…

A computer software project designed to annotate, visualize, and analyze the genetic variants identified through next-generation sequencing studies, including WGS and exome sequencing studies.

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AMF
Desktop

AMF AgroMarker Finder

A GUI software for providing graphical user interface (GUI) to facilitate the…

A GUI software for providing graphical user interface (GUI) to facilitate the recently developed restriction-site associated DNA (RAD) sequencing data analysis in rice. AMF integrates sophisticated…

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TraPS-VarI
Desktop

TraPS-VarI Transmembrane Protein Sequence Variant Identifier

Identifies functionally meaningful germline receptor variants by using the…

Identifies functionally meaningful germline receptor variants by using the genome-wide genetic variation datasets. TraPS-VarI traces genomic variants to their effects on membrane proteins. It uses a…

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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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NGS-SNP
Desktop

NGS-SNP

A collection of command-line scripts for providing rich annotations for SNPs…

A collection of command-line scripts for providing rich annotations for SNPs identified by the sequencing of transcripts or whole genomes from organisms with reference sequences in Ensembl.

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WhopGenome
Desktop

WhopGenome

An R package for fast, straightforward and flexible processing of genomic…

An R package for fast, straightforward and flexible processing of genomic variation data in variant call format (VCF). VCF files can be accessed either on local hard drives or on remote servers.…

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SNP Function…
Dataset

SNP Function Portal

Designed to be a clearing house for all public domain SNP functional annotation…

Designed to be a clearing house for all public domain SNP functional annotation data, as well as in-house functional annotations derived from different data sources.

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LS-SNP/PDB
Web

LS-SNP/PDB

A web tool for genome-wide annotation of human SNPs. LS-SNP/PDB provides…

A web tool for genome-wide annotation of human SNPs. LS-SNP/PDB provides information useful for identifying amino-acid changing SNPs (nsSNPs) that are most likely to have an impact on biological…

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BioR
Desktop

BioR Biological Reference Repository

A flexible, readable, indexable, and schema-free format for storing and rapidly…

A flexible, readable, indexable, and schema-free format for storing and rapidly accessing arbitrary structured data such as genomic features, diseases, conditions, genetic tests, and drugs.

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GEMINI
Desktop

GEMINI GEnome MINIng

Designed to be a flexible framework for exploring genetic variation in the…

Designed to be a flexible framework for exploring genetic variation in the context of the wealth of genome annotations available for the human genome.

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FunctSNP
Desktop

FunctSNP

A package to custom built species-specific databases. FunctSNP provides a…

A package to custom built species-specific databases. FunctSNP provides a unified bioinformatics resource to link single nucleotide polymorphisms (SNPs) with functional knowledge (e.g., genes,…

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SNPdbe
Dataset

SNPdbe

A database and a web interface that is designed to fill the annotation gap left…

A database and a web interface that is designed to fill the annotation gap left by the high cost of experimental testing for functional significance of protein variants.

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FamAnn
Desktop

FamAnn

An automated variant annotation pipeline designed for facilitating target…

An automated variant annotation pipeline designed for facilitating target discovery for family-based sequencing studies.

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AnnTools
Desktop

AnnTools

A versatile bioinformatics application designed for comprehensive annotation of…

A versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known single-nucleotide substitutions (SNP/SNV), short…

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SNPMeta
Desktop
Web

SNPMeta

A Python and BioPython-based tool to generate "metadata" for single…

A Python and BioPython-based tool to generate "metadata" for single nucleotide polymorphisms (SNPs) for easy filtering, or submission to SNP databases.

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SNPmasker
Web

SNPmasker

Masks all single nucleotides polymorphisms (SNPs) in given sequence using…

Masks all single nucleotides polymorphisms (SNPs) in given sequence using information of dbSNP database. SNPmasker can also mask all non-unique words using GenomeMasker module. It allows masking of…

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LARVA
Desktop

LARVA Large-scale Analysis of Variants in noncoding Annotations

A computational framework designed to facilitate the study of noncoding…

A computational framework designed to facilitate the study of noncoding variants. LARVA addresses issues that have made it difficult to derive an accurate model of the background mutation rates of…

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PureCN
Desktop

PureCN

Estimates tumor purity, copy number, loss of heterozygosity (LOH), and status…

Estimates tumor purity, copy number, loss of heterozygosity (LOH), and status of single nucleotide variants (SNVs). PureCN is designed for targeted short read sequencing data, integrates well with…

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PyVar
Desktop

PyVar

Compares the results of variant annotation from different popular methods and…

Compares the results of variant annotation from different popular methods and for reconciling different output formats and consequence ontologies to allow easy exploratory analysis. PyVar uses a set…

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SNiPlay
Web

SNiPlay

A web-based tool for detection, management and analysis of genetic variants…

A web-based tool for detection, management and analysis of genetic variants including both single nucleotide polymorphisms (SNPs) and InDels. Version 3 now extends functionalities in order to easily…

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MAVIANT
Web

MAVIANT Multipurpose Alignment Viewing and Annotation Tool

Provides contig and DNA chromatogram views and allows visual inspection of the…

Provides contig and DNA chromatogram views and allows visual inspection of the polymorphic sites. MAVIANT generates views build from html, png image and javascript files and is platform independent.…

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VAI
Web
Desktop

VAI Variant Annotation Integrator

Adds functional annotations to variant calls; the Variant Annotation Integrator…

Adds functional annotations to variant calls; the Variant Annotation Integrator offers a more restricted set of underlying data tracks but adds predictions of each variant's consequences for any…

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WGPA
Web

WGPA Web-based Gene Pathogenicity Analysis

A web-based tool to analyse genes impacted by mutations and rank them through…

A web-based tool to analyse genes impacted by mutations and rank them through the integration of existing prioritisation tools, which assess different aspects of gene pathogenicity using…

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WGSA
Desktop

WGSA WGS annotator

An annotation pipeline for human genome re-sequencing studies, to facilitate…

An annotation pipeline for human genome re-sequencing studies, to facilitate the functional annotation step of whole-genome sequencing (WGS). Currently WGSA supports the annotation of SNVs and indels…

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CandiSNPer
Web

CandiSNPer

A software tool that determines the linkage disequilibrium (LD) region around a…

A software tool that determines the linkage disequilibrium (LD) region around a significant SNP from a GWAS. CandiSNPer provides a list with functional annotation and LD values for the SNPs found in…

GTB
Web

GTB Genome Tolerance Browser

Enables users to visualize the similarities and differences between several…

Enables users to visualize the similarities and differences between several prediction algorithms. GTB is an online genome browser for visualizing the predicted tolerance of the human genome. It…

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Fast-GBS
Desktop

Fast-GBS

A Genotyping-by-sequencing (GBS) bioinformatics pipeline designed to provide…

A Genotyping-by-sequencing (GBS) bioinformatics pipeline designed to provide highly accurate genotyping. Fast-GBS is capable of handling data from different sequencing platforms and can detect…

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VAX
Desktop

VAX Variant Annotator eXtras

A scalable method for using the plugin capability of the Ensembl Variant Effect…

A scalable method for using the plugin capability of the Ensembl Variant Effect Predictor to enrich its basic set of variant annotations with additional data on genes, function, conservation,…

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FEATnotator
Desktop

FEATnotator

Integrates any kind of genomic feature data represented by chromosome…

Integrates any kind of genomic feature data represented by chromosome positional information with the known reference annotation based on the positional overlap. FEATnotator also reports overlap and…

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pfSNP
Dataset

pfSNP

Web resource, which is aimed to facilitate better hypothesis generation through…

Web resource, which is aimed to facilitate better hypothesis generation through knowledge syntheses mediated by better data integration and a user-friendly web interface. pfSNP integrates different…

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SeqWare Query…
Desktop

SeqWare Query Engine

The open source project is a portable software infrastructure designed to…

The open source project is a portable software infrastructure designed to analyze massive genomics datasets produced by contemporary and emerging technologies, in particular Next Generation…

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MultiRes
Desktop

MultiRes

Uses a collection of sizes of k-mers as features for detecting sequencing…

Uses a collection of sizes of k-mers as features for detecting sequencing errors and rare variants. MultiRes is a reference-free k-mer based on error detection algorithm for a viral population. The…

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TiSAn
Desktop

TiSAn Tissue-Specific Annotation

Aims at providing a functional annotation tool for the genetic variation, using…

Aims at providing a functional annotation tool for the genetic variation, using prior on different tissues. TiSAn is a general statistical learning framework in which researchers can derive a…

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GeMSTONE
Web

GeMSTONE Germline Mutation Scoring Tool fOr Next-Generation sEquencing data

Allows an accessible, collaborative, replicable and holistic analysis of…

Allows an accessible, collaborative, replicable and holistic analysis of genetic variants. GeMSTONE permits to eliminate the time and space burdens associated with modern variant analysis tools. It…

PCGR
Desktop

PCGR Personal Cancer Genome Reporter

Generates a tiered report that will aid the interpretation of individual cancer…

Generates a tiered report that will aid the interpretation of individual cancer genomes in a clinical setting. PCGR is a stand¬alone, open¬source software package for somatic variant annotation…

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MyVariant.info
Desktop

MyVariant.info

Allows to query variant annotation information. MyVariant.info uses a…

Allows to query variant annotation information. MyVariant.info uses a generalizable cloud-based model for organizing and querying biological annotation information. It utilizes the nomenclature from…

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vtools
Desktop

vtools variant tools

A flexible annotation and analysis toolset that greatly simplifies the storage,…

A flexible annotation and analysis toolset that greatly simplifies the storage, annotation and filtering of variants and the analysis of the underlying samples. variant tools can be used to manage…

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gSearch
Desktop

gSearch

Compares sequence variants in the genome variation format (GVF) or variant call…

Compares sequence variants in the genome variation format (GVF) or variant call format (VCF) with a pre-compiled annotation or with variants in other genomes. Its search algorithms are subsequently…

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GeneVetter
Web

GeneVetter

An interactive web tool that facilitates quantifying and accounting for the…

An interactive web tool that facilitates quantifying and accounting for the background prevalence of predicted pathogenic variants in a population. GeneVetter allows users to quantify the…

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SNPdat
Desktop

SNPdat

A simple and easy to use high through-put analysis tool which can provide…

A simple and easy to use high through-put analysis tool which can provide comprehensive annotation of both novel and known SNPs for any organism with a draft sequence and annotation. It is especially…

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SnpFilt
Desktop

SnpFilt

A bioinformatics pipeline that constructs an assembly using SPAdes and then…

A bioinformatics pipeline that constructs an assembly using SPAdes and then removes unreliable regions based on the quality and coverage of re-aligned reads at neighbouring regions. SnpFilt removed…

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MAC
Desktop

MAC Multi-Nucleotide Variant Annotation Corrector

An integrative pipeline developed to correct potentially mis-annotated…

An integrative pipeline developed to correct potentially mis-annotated multi-nucleotide variants (MNVs). MAC was designed as an application that only requires a SNV file and the matching BAM file as…

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SNVrap
Web

SNVrap

Annotates human genetic variants. SNVrap uses gene-based features and…

Annotates human genetic variants. SNVrap uses gene-based features and functional genomics datasets to annotate single nucleotide variation (SNVs) in human, at whole genome scale. Several function…

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VarioWatch
Web

VarioWatch

Provides an easy way for researchers to directly and quickly annotate a large…

Provides an easy way for researchers to directly and quickly annotate a large number of human genomic variants online without having to run an offline annotating application or needing help from an…

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Phenopolis
Web
Desktop

Phenopolis

Provides an intuitive interface to genetic and phenotypic databases. Phenopolis…

Provides an intuitive interface to genetic and phenotypic databases. Phenopolis integrates analysis tools which include variant filtering and gene prioritisation based on phenotype. With the help of…

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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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VaRank
Desktop

VaRank

A simple and powerful tool designed for variant ranking from next generation…

A simple and powerful tool designed for variant ranking from next generation sequencing data. VaRank provides a comprehensive workflow for annotating and ranking SNVs and indels. Four modules create…

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Variobox
Desktop

Variobox

A desktop tool for the annotation, analysis and comparison of human genes.…

A desktop tool for the annotation, analysis and comparison of human genes. Variant annotation data are obtained from WAVe, protein metadata annotations are gathered from PDB and UniProt, and sequence…

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SNPAAMapper
Desktop

SNPAAMapper A SNP Amino Acid Mapping tool

A downstream variant annotation program that can effectively classify variants…

A downstream variant annotation program that can effectively classify variants by region, predict amino acid change type, and prioritize mutation effects.

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Pilon
Desktop

Pilon

Corrects draft assemblies and calls sequence variants of multiple sizes,…

Corrects draft assemblies and calls sequence variants of multiple sizes, including very large insertions and deletions. Pilon improves draft genome assemblies by correcting bases, fixing…

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seqminer
Desktop

seqminer

Efficiently Read Sequence Data (VCF Format, BCF Format and METAL Format) into R.

Efficiently Read Sequence Data (VCF Format, BCF Format and METAL Format) into R.

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ASOoViR
Desktop

ASOoViR

A set of Ruby modules to annotate consequence terms, defined by the Sequence…

A set of Ruby modules to annotate consequence terms, defined by the Sequence Ontology, of variants (SNP/SNVs, INDELs, SVs, CNAs) using Ensembl gene sets.

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COVA
Desktop

COVA

It’s a variant annotation and comparison tool for next-generation sequencing.

It’s a variant annotation and comparison tool for next-generation sequencing.

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VAT
Desktop

VAT Variant Annotation Tool

A computational framework to functionally annotate variants in personal genomes…

A computational framework to functionally annotate variants in personal genomes using a cloud-computing environment.

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ALG
Desktop

ALG Automated Luminex Genotyping

A software package that allows for extensive genotype calling from Luminex…

A software package that allows for extensive genotype calling from Luminex assays. ALG software is efficient and provides internal quality controls, and is an alternative to the commercial software.…

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GWCNV
Desktop

GWCNV

Detects CNV associations with diseases through a genome-wide algorithm. GWCNV…

Detects CNV associations with diseases through a genome-wide algorithm. GWCNV is a genome-wide algorithm for detecting CNV associations with diseases. It works directly on a transformation of…

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ReviSeq
Desktop

ReviSeq

Revises a genome sequence of a prokaryotic sample. ReviSeq uses a hybrid method…

Revises a genome sequence of a prokaryotic sample. ReviSeq uses a hybrid method comprised of iterative remapping and local assembly upon a bacterial sequence backbone. This method was applied to six…

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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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Alamut Batch
Desktop

Alamut Batch

A high-throughput annotation software for NGS analysis. Designed for intensive…

A high-throughput annotation software for NGS analysis. Designed for intensive variant analysis workflows, this new software enriches raw NGS variants with dozens of attributes including effects on…

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VARIANT
Web

VARIANT VARIant ANalysis Tool

This tool can report the functional properties of any variant in all the human,…

This tool can report the functional properties of any variant in all the human, mouse or rat genes (and soon new model organisms will be added) and the corresponding neighborhoods.

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VAGrENT
Desktop

VAGrENT Variation Annotation GENeraTor

A suite of perl modules that compares genomic variations with reference genome…

A suite of perl modules that compares genomic variations with reference genome annotations and generates the possible effects each variant may have on the transcripts it overlaps. VAGrENT evaluates…

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CHAoS
Desktop

CHAoS

A Perl-based system for annotation of variants identified in high-throughput…

A Perl-based system for annotation of variants identified in high-throughput sequencing experiments developed at the Wellcome Trust Centre for Human Genetics (WTCHG).

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GESND
Desktop

GESND Genetic Screening and Diagnosis

A package and a pipeline for identifying causal mutations for rare congenital…

A package and a pipeline for identifying causal mutations for rare congenital diseases by next-generation sequencing.

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TRAMS
Desktop

TRAMS Tool for Rapid Annotation of Microbial SNPs

A simple program for rapid annotation of genomic variation in prokaryotes.

A simple program for rapid annotation of genomic variation in prokaryotes.

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SNPper
Web

SNPper

Retrieve known SNPs by position or by association with a gene; save, filter,…

Retrieve known SNPs by position or by association with a gene; save, filter, analyze, display or export SNP sets; explore known genes using names or chromosome positions. Note that most of the…

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Mutadelic
Web

Mutadelic

An alternative solution based on description logic (DL) inferencing to generate…

An alternative solution based on description logic (DL) inferencing to generate workflows that produce only those annotations that will contribute to the interpretation of each variant. Workflows are…

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SNP-PHAGE
Desktop

SNP-PHAGE SNP discovery Pipeline Haplotype Analysis GenBank submissions

Analyzes sequence traces from diverse soybean genotypes to discover over 10,000…

Analyzes sequence traces from diverse soybean genotypes to discover over 10,000 single nucleotides polymorphisms (SNPs). SNP-PHAGE provides a bioinformatics solution for high throughput SNP…

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