Method and rigour
Check command of ACMG/AMP classification criteria, HGVS nomenclature, and ontology mapping with HPO or MONDO; ask which reference builds, transcripts, and gnomAD population filters they apply.
Evidence to listen for
- Follows and can justify an established methodology
- Understands contamination, bias, and chain of custody as they apply to the field
- Knows the limits of their techniques and says so
- Documents procedure so results are reproducible and defensible
Five-point scoring guide
Careless method; unaware of contamination, bias, or procedural integrity.
Knows procedures but applies them inconsistently; gaps in documentation.
Sound standard practice; less certain outside familiar techniques.
Rigorous and well documented; understands the limits of each method.
Cites specific evidence codes (PS3, PM2, BP4), explains transcript selection and build liftover, and names population frequency thresholds used.