What turns a genotype–phenotype correlation into causal evidence?
by Hana R.
Which functional readout best separates a disease-causing variant from one that merely tracks with an autoimmune or autoinflammatory phenotype? The NGS-based cohort framing invites a closer look at whether candidate variants were tested in disease-relevant immune cells, whether the phenotype was rescued by restoring the reference allele, and whether the assay distinguished partial loss, gain, or altered regulation of function. Those distinctions matter when moving from statistical association to a defensible molecular mechanism.
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