Seave utilizes the powerful GEMINI platform for short variant storage and annotation. GEMINI is designed to be a flexible framework for exploring genetic variation in the context of the wealth of genome annotations available for the human genome. Longer variants such as CNVs, SVs, losses of heterozygosity and regions of homozygosity are stored in the Seave Genome Block Store (GBS). The GBS can be queried along with short variants or separately for specific genes, regions or for overlaps.
Integration of external data sources allows you to see the latest information about your variants and their likely impact on genes of interest without having to navigate to individual sources manually. Variant annotations are sourced from OMIM, ClinVar, COSMIC, Orphanet, CADD, internal allele frequencies, RVIS, MITOMAP and many more. These prediction algorithms, conservation scores and other related information (such as allele frequencies across human populations) allow rapid variant filtering and prioritisation.
Tried and tested gene panels offer a rapid screen to confirm or diagnose a known condition. Typically made up of small numbers of genes, these panels yield hundreds to thousands of variants at a high sequencing depth.
Exomes offer a cost-effective method to explore variation in the coding regions of the genome. Focussing on ~1.5% of the genome, exomes typically yield hundreds of thousands of variants.
Sporting as many as 10 million variants across a typical family, genomes are no easy nut to crack. Seave makes interrogating this massive volume of data simple with rigorous filters that intelligently cast away likely benign variants.