Product Description

Omnia is a comprehensive Clinical Variant database for Mendelian and Complex disorders.

Key Features

Manually curated database of variant-disease association, compiled by deep data mining from public scientific literature.
> 95 clinical fields captured for variants
Usage of Controlled Vocabulary — Standard disease names (OMIM, MeSH), Hugo gene names and HGVS notation followed to mitigate ambiguity in captured information
> 10,000 genotype-phenotype relationships across 4 disease categories (Oncology, Neurology, Pediatrics and metabolic disorders)
> 326,370 data points spanning across > 490 disease subcategories and 534 associated genes
Detailed genomic, cDNA and protein level annotation of variants.
Approved Drugs (FDA, PharmGKB, Drugbank) and Clinical trial information for variants.
Heritability & Zygosity of the variants.
Pathogenicity & Risk statistics of the variants.
Frequent/Hotspot mutations captured.