VarDiG® Product Line for Deciphering Variants
VarDiG (Variants Diseases and Genes )
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 vigorous quality control procedures to produce a database which has high specificity & integrity. Continuous curation keeps the database up-to-date. VarDiG- DB is an expert-curated database which contains 800,000 mutations which can be categorized into SNPs, indels, INS,DEL.
VarDiG plays an important role in data-analysis and report creation for our customers who are Clinicians, Researchers, Academicians, Molecular Geneticists, Bioinformaticians, Molecular Biologists, Pharmaco-Geneticists.
VarDiG-V1 ® contains mutations related to both Rare Diseases & Cancer
VarDiG DATABASE has been created by careful manual curation of around 7300 journals and covering over 400,000+ research articles as on March 1st 2021). The database contains more than 800,000 variants , 31,163 genes and 5300 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
VarDiG® SEARCH ENGINE
VarDiG-R has a powerful Search Engine (Human Variant Decipher Engine (HVDE) ) for Searching many attributes related to the Human Gene Variants.
Variants can be searched flexibly in the following ways.
GENE SEARCH: Search for variants in Genes using various attributes of Gene like Gene Name, Gene Alias, Gene Symbol, Gene Description, Gene 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 & Alternate Alleles, Variant Classes, Mutation Type, Mutation Description, Allele Frequency, Phenotype details in 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.
SEARCH RESULTS FILTERS: Search results can be further narrowed down by using Allele Frequency or Mutation Type or Phenotype (both DOID and MESH terms)
SEARCH RESULTS VISUALIZATION: Mesh tree visualization is provided in the Phenotype results column
VCF FILE UPLOAD AND DATA DOWNLOAD: VCF files can be uploaded to get the variant result hits. Filters have been provided to further analyze and get the needed data.
Filters like Allele Frequency and Quality Filters(DP Level, MQ Value), Gene, Phenotype, Chromosome etc., Search results can be downloaded as an excel file to your local machine
VCF FILE ANALYSIS FOR PANEL SEQUENCING: VCF files of size <1GB can be uploaded by http protocol. VarDiG hits can be visualized by bar-charts, tables and in visualization tools. Different types of Filters help in further data-analysis and the results can be downloaded in an excel file.
VCF FILE ANALYSIS FOR WHOLE GENOME SEQUENCING: VCF files of size >1GB can be uploaded by sftp protocol and submitted as jobs. Once job is done results can be further analyzed by filters or visualization tools and downloaded.
For more information about VarDiG please contact us using the -> Contact Form
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