Genome variation analysis software tools and databases

Genome variant analysis steps

Bioinformatics tools

Biological databases

Genome variation analysis software tools and databases

Most Recent Tools

PRO-MINE
Web

PRO-MINE PROtein Mutations In NEurodegeneration

Contains data from the literature regarding all TDP-43/TDP43/TARDBP gene…

Contains data from the literature regarding all TDP-43/TDP43/TARDBP gene disease-associated mutations identified to date. PRO-MINE provides a web interface to query the database and to provide tools…

Human…
Dataset

Human Chromosome 21 SNP Database

Provides integrated single nucleotide polymorphism (SNP) information about…

Provides integrated single nucleotide polymorphism (SNP) information about Human Chromosome 21 genes. The Human Chromosome 21 SNP database has integrated SMART database and Entrez dbSNP. The database…

MyGene2
Dataset

MyGene2

Offers a portal through which families with rare genetic conditions who are…

Offers a portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. By…

SISu
Dataset

SISu Sequencing Initiative Suomi

Offers a way to search for data on sequence variants in Finns. SISu provides…

Offers a way to search for data on sequence variants in Finns. SISu provides valuable summary data for researchers and clinicians as well as other people having an interest in genetics in Finland.…

Most Popular Tools

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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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