Analysis flow
A transparent path from reads to review.
Each stage is expected to emit explicit artifacts, quality metrics and machine-readable provenance. The long-term objective is to make reruns, comparison, verification and expert sign-off practical across local, cloud and HPC execution environments.
Raw data quality controlFASTQ integrity and sequencing metrics
Alignment and BAM qualityGRCh38 alignment with measurable QC
Variant calling and normalizationDeepVariant output prepared for consistent annotation
Functional and clinical evidenceVEP, ClinVar, gnomAD and curated evidence sources
Phenotype and inheritance contextHPO, disease normalization and family-aware logic
Candidate ranking and reportingStructured evidence for qualified expert assessment