⠀⠀⠀⠀Software for working with data obtained using the VariFind™ test systems. Does not require user bioinformatics training. ⠀⠀⠀⠀VariFind™ Software provides high-throughput sequencing analysis, quality control and annotation of genetic variants. Since it is deployed in the cloud, the software does not require the user's own computing power.
VariFind™ Software
⠀⠀⠀⠀Access to the VariFind™ Software is free with the purchase of any VariFind™ panels.
⠀⠀⠀⠀The data upload interface allows the importation of sequencing results and initialisation information. The assay can be run simply by entering the reagent batch number. All files can be uploaded via the "browse" button or simply by dragging and dropping the relevant file into the active field.
Importing data and metainformation
⠀⠀⠀⠀The data upload interface allows the importation of sequencing results and initialisation information. The assay can be run simply by entering the reagent batch number. All files can be uploaded via the "browse" button or simply by dragging and dropping the relevant file into the active field.
Importing data and metainformation
⠀⠀⠀⠀All found variants are visualised on the main working tab, indicating the gene, the trivial name of the variant, HGVS nomenclature, zygosity, ACMG values and links to external databases. The drop-down tabs contain parameters for filtering and flexible search, analysis details, basic information about passing quality control, as well as buttons for uploading data in the .BAM, .BAI, .VCF format. Automatic quality control parameters are displayed in the launch workspace:
Data analysis
Overall quality (%); Number of hotspots in regions with low coverage; Number of targeted reads; Contamination control; Sex; Quality control of CNV analysis, if required by panel design.
⠀⠀⠀⠀The most commonly occurring variants are annotated according to ACMG requirements. For rare, non-annotated variants, it is possible to request an annotation from our specialists.
Annotations
⠀⠀⠀⠀All hotspots defined for the used panel are rendered in a separate "Assay hotspots" tab. Clinically significant variants in regions of low coverage are marked in red. The double control performed in this tab allows elimination of variants in hotspots.
Clinically significant variants (hotspots)
⠀⠀⠀⠀The quick visual evaluation of results by the built-in IGV browser is useful when monitoring hotspot variants in regions with low coverage.
IGV browser
⠀⠀⠀⠀The Coverage Analysis tab displays the number of reads along with strand bias and a special “Coverage” parameter that compares current coverage with the reference standard for each amplicon.
The Coverage Analysis
⠀⠀⠀⠀The biological identifiers (BIDs) included in the VariFind™ test system comprise amplicons on variable regions of the genome. These can be used to detect the presence of sample contamination, as well as for determining the sex (for human samples only).
BIDs
⠀⠀⠀⠀The system generates a report indicating the analysed genes, found variants and quality parameters.
Report
⠀⠀⠀⠀The system generates a report indicating the analysed genes, found variants and quality parameters.
Report
Key Benefits
Data processing and interpretation in one software product