Constitutional Variant Explorer
Germline prioritisation, QC and inheritance context.
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Constitutional variants
Analysis and prioritisation of germline variants while retaining phenotype, inheritance model, data quality and project context.
Data & scope
WGS, WES or targeted panels can be reviewed according to the scientific question, available family design and expected level of characterisation.
Bioinformatics analysis
- Quality control and variant-set review
- Functional annotation and frequency filtering
- Prioritisation by consequence, genotype and inheritance model
- Integration of phenotype information when available
- CNVs or structural variants where the data support appropriate analysis
Results provided
Annotated and filterable tables, quality-control elements, candidate summaries, methods and interactive reporting according to the agreed scope.
Interactive example