Functional genomics
Single-cell genomics: more cells do not replace more participants
Cell atlases reveal biological heterogeneity, but meaningful disease comparisons require sound sampling, batch handling and independent replication.
Functional genomics
Functional genomics
Functional variant assays: abnormal biology is not automatically pathogenicity
Assay validation, disease mechanism and clinical calibration determine whether a laboratory observation can strengthen variant classification.
Functional genomics
CRISPR screens: from a selected hit to a defensible mechanism
A screen identifies candidates under particular experimental conditions; orthogonal evidence is needed before treating a hit as a disease mechanism or therapeutic target.