Genome variation analysis software tools and databases

Genomic variants are differences in genome that make each individual unique. Some of the single nucleotide polymorphisms (SNPs), insertions, deletions, substitutions, and structural variations are linked to specific phenotypes or diseases, but most of them have still unknown…

Genome variant analysis steps

Bioinformatics tools

Biological databases

Most recent bioinformatics tools

Skeleton…
Dataset

Skeleton Genetics

Provides full-scale gene and mutation information and extensive annotations for…

Provides full-scale gene and mutation information and extensive annotations for genetic skeletal disorders (GSD). Skeleton Genetics aims to facilitate the users to assess the regarding interest…

HCAD
Dataset

HCAD Human Chromosome Aberration Database

Gathers textual and comprehensive information of registered genes. HCAD…

Gathers textual and comprehensive information of registered genes. HCAD supplies over 700 breakpoints and integrates literature associations to about 800 genes from 2000 cytogenetically different…

HbVar
Dataset

HbVar Human Hemoglobin Variants and Thalassemias

Provides a locus-specific database. HbVar compiles information about genomic…

Provides a locus-specific database. HbVar compiles information about genomic sequence changes leading to hemoglobin variants, hemoglobinopathies all types of thalassemia. The database gathers…

KDD
Dataset

KDD Kawasaki Disease Database

Facilitates the usage of clinical and genetic data collected by the Korean…

Facilitates the usage of clinical and genetic data collected by the Korean Kawasaki Disease Genetics Consortium (KKDGC). KDD was built by collecting clinical data of kawasaki disease (KD) patients…

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…

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…

HYBRIDdb
Dataset

HYBRIDdb

A database which provides detailed information regarding the exploration of a…

A database which provides detailed information regarding the exploration of a specific hybrid gene of interest. HYBRIDdb encompasses the bioinformatics analysis of mRNA, EST, cDNA and can be used to…

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