Analysis pipeline
Whole-genome & exome analysis
A traceable workflow for variant discovery, annotation, and research interpretation.
Workflow
Six stages, one traceable analysis
- 01
Sample, pedigree, and reference-build review
- 02
Read quality control, alignment, and duplicate handling
- 03
SNV, indel, and optional CNV calling
- 04
Variant quality filtering and annotation
- 05
Cohort, phenotype, or association analysis
- 06
Prioritized results with methods documentation
Built around the experiment—not a black box.
Tools and parameters are selected after reviewing study design, sample size, data quality, biological replicates, and the intended use of the results. Deliverables include methods documentation and analysis-ready outputs.
Discuss this pipeline →