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Variants Deciphered

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Our VarDiG® Product Line for Mutanomics

(VarDiG is an acronymn for Variants Diseases and Genes (VarDiG also means Worthy / Dignified in swedish language))

Rapid advancements in science and technology has created the 'Big Data Genomic World' and has empowered bioinformaticians to build intelligent and elegant tools to dig out refined data and accelerate scientific discovery. VarDiG is one such product of Genomatics which employs a judicious mix of bioinformatics methodologies and manual curation procedures to bring out the relationships between the Variants, Diseases and Genes. The literature evidence captured helps in identifying clinically actionable and biologically significant variants.

VarDiG is a powerful software platform which has been built to delve deep into the plethora of genetic data available, collate, extract and integrate in a way to help the scientific community understand the human genetic mutational spectra better.

VarDiG's web interface talks to the underlying value database which contains the most updated data mappings of variants, diseases and genes identified in the world. The underlying processes which create and maintain the VarDiG Database undergo a vigorous quality control process to produce a database which has integrity, accuracy and that which is up-to-date.VarDiG- DB is an expert-curated database which contains 240,000 mutations which can be categorized into SNPs, indels, INS,DEL.

VarDiG can be used by various types of researchers, like academicians, molecular geneticists, bioinformaticians, molecular biologists, pharmacogeneticists and clinicians.

The Products

 

VarDi-R             

VarDiG-R is a powerful Search Engine for searching human variants. That's why we call it a Human Variant Decipher Engine (HVDE) !

Variants can be searched flexibly in different ways.

GENE SEARCH: Search for variants in Genes using various attribtes of Gene like Gene name, alias, symbol, description, family, chromosome position and refseq Id. Search results give information about Variants and its different attributes like HGVS, RSID, Gene Strand, Chromosome Start & End, Reference and alternate allele, Variant class, Mutation type, Mutation description, Allele frequency, Phenotype details (MESH tree format) and publication reference with hyperlink for preview. VarDiG-R gives information about Mutations in both intergenic and intragenic regions.

OTHER SEARCHES: Search for variants can also be done by HGVS, Chromosome, SNP, Phenotype.

FILTERS:Search results can be further narrowed down by using Allele Frequency or Mutation Type or Phenotype (both DOID and MESH terms)

VISUALIZATION:Mesh tree visualization is provided in the Phenotype results column

VARDIG DATABASE:The database has been created by careful manual curation of around 3,800 journals and covering over 100,000+ research articles. The database contains more than 260,000 variants , 20,488 genes and 4459 phenotypes. The database contains validated information about the variants including, 

• nucleotide and amino acid changes.

• variant type and impact on protein.

• genomic coordinates.

• disease association and reported clinical information.

• literature references

VCF FILE UPLOAD AND DATA DOWNLOAD: Vcf files can be uploaded to get the search results along with filters like Allele Frequency and Quality Filters(DP Level, MQ Value). Search results can be downloaded as an excel file to your local machine


For more information about VarDiG-R please use our Contact Form