Genomics & Variant Analysis
Genomics & variants
Discuss sequence quality, variant annotation and research prioritization for exome, genome or targeted sequencing.
Questions to discuss
- Which variants warrant further investigation in the context of the study?
- Are reference-build, coverage and sample information consistent?
- Can existing variant results be reviewed or reannotated?
Input for review
- Organism, sequencing assay, platform and sample identifiers.
- Sequencing reads or existing alignment/variant files for review; reference assembly and any vendor reports.
- Study groups, relatedness or pairing where relevant, and the biological question.
Analysis planning
- Input review and checks appropriate to the supplied data.
- Reference and annotation-resource selection, with software versions recorded.
- Variant annotation and prioritization criteria agreed around the research question.
- Review of supporting evidence, uncertainty and follow-up requirements.
Reporting options
- Quality summaries and review decisions.
- Annotated variant tables and prioritization notes.
- Figures and a documented analysis record, as agreed.
Interpretation
Variant prioritization supports research interpretation. Clinical classification, diagnosis and clinical reporting require an appropriate clinical framework and are outside the scope described here.