Bioinformatics-powered whole genome sequence information
provides the most complete medical insights
into a person’s disease.
Rare disease patients face many challenges including misdiagnosis, and delayed diagnosis
but lack of access to comprehensive genomic information should not be one of them.
A fast, acute, and comprehensive automated WGS pipeline coupled
with a bioinformatics-powered digital solution
Variant calling
(germline comparison to reference genomes)
Single nucleotide
variation/INDEL
Structural
variations
Copy number
variation
Transposable
element
Annotation of found mutations
Aligned with ACMG/ClinGen recommendations
Filtering
of significant variants from millions of germline variants based
on population data and mapping quality
Interpretation
Pathogenic Assessment
Family history
number of included affected or healthy family members, mode of inheritance etc.
Individual clinical characteristics
Pediatric and Genomic specialist's curation
A user-friendly report of medically meaningful insights
