Genome variation analysis software tools and databases

Genome variant analysis steps

Bioinformatics tools

Biological databases

Most recent bioinformatics tools

EVA
Dataset

EVA European Variation Archive

Offers a collection of genetic variation data for all species. EVA is…

Offers a collection of genetic variation data for all species. EVA is searchable by study, gene, chromosomal location or Single Nucleotide Polymorphism database (dbSNP) identifier. It works in…

CFTR-France
Dataset

CFTR-France

Provides genetic information contents on the Cystic Fibrosis (CF) phenotype.…

Provides genetic information contents on the Cystic Fibrosis (CF) phenotype. The main objectives of CFTR-France were: (i) to collect all types of genetic data in each category of individuals who are…

Genotator
Web

Genotator

Integrates over a host of mainstream databases to provide automatic and…

Integrates over a host of mainstream databases to provide automatic and up-to-date information on any human disease. Genotator includes data from 11 externally accessible clinical genetics resources…

PigVar
Dataset

PigVar

Contains high density pig whole-genome wide variation data and positive…

Contains high density pig whole-genome wide variation data and positive selection calls using genome data from three broad pig populations: Chinese domestic pigs, Tibetan pigs and European domestic…

Most popular analytical software and databases

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RBP-Var
Dataset

RBP-Var

Provides annotation of functional variants involved in post-transcriptional…

Provides annotation of functional variants involved in post-transcriptional interaction and regulation. RBP-Var provides a user-friendly web interface, allowing users to rapidly find whether SNVs of…

VarSome
Dataset

VarSome

A knowledge base and aggregator for human genomic variants. VarSome gives fast…

A knowledge base and aggregator for human genomic variants. VarSome gives fast access to more than 17 billion items of variant and gene annotation sourced from public databases. It also provides…

IGV
Desktop

IGV Integrative Genomics Viewer

A high-performance viewer that efficiently handles large heterogeneous data…

A high-performance viewer that efficiently handles large heterogeneous data sets, while providing a smooth and intuitive user experience at all levels of genome resolution. A key characteristic of…

is-rSNP
Web

is-rSNP In silico regulatory SNP detection

Predicts whether a SNP is an rSNP. For a given SNP, and using a statistical…

Predicts whether a SNP is an rSNP. For a given SNP, and using a statistical framework, is-rSNP can successfully predict the set of TFs for which binding is affected. It provides the statistical power…

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