Platform
The BIODECODE Analysis Platform.
Our own genome analysis platform, bringing variant interpretation, trio and CNV analysis and pharmacogenomics together in one patient record.
Our platform: one interface from data to decision.
We run all our analyses on a genome analysis platform we built ourselves. Variant interpretation, trio and CNV analysis and pharmacogenomics live in the same patient record, with a traceable history.
c.2836C>T · p.Arg946CysHet · de novoPathogenicc.881C>T · p.Ala294ValHetLikely pathogenicc.215T>C · p.Ile72ThrHetVUSc.1216C>T · p.Arg406CysHetVUSc.605C>A · p.Ser202TyrHet · maternalLikely benignref/refMother
ref/refPatient
ref/alt
A new parental file never replaces the old one until its genotypes are validated; conflicting genotypes are rejected.
Region-level copy-number ratio against a panel-of-normals (PoN) reference. Missing or malformed reference rows are never skipped; the upload is rejected.
Discovery pipeline: filter, lookup, loss-of-function and ACMG stages, each with a persistent record.
run_7f3a…Input SHA-256 recordedGRCh38 verifiedPatient-level variant interpretation
Annotation, ACMG classification and prioritisation by HPO phenotype terms; notes and labels stay bound to the variant identity.
Trio and CNV
Inheritance analysis with parental genotypes; copy-number assessment against a panel-of-normals reference.
Drug Response Profile
Pharmacogenomic analysis in the same patient record; without a kit selection, analysis never silently falls back to a default.
Every run is traceable
Every analysis is stored in a persistent history with its job ID, timestamps and SHA-256 digests of its input files.
Data stays in-house
Patient data is processed locally with restricted external connections; access is separated into user and administrator roles.
Testing discipline
More than 2,600 automated tests and independent comparisons against GeT-RM reference samples.