What would make a genotype-phenotype correlation mechanistically specific?
by Hana R.
Which functional result would distinguish a disease-causing genotype from a correlated finding in an autoimmune or autoinflammatory cohort? Cohort-level concordance can prioritize variants, but mechanistic specificity may require a readout tied to the affected immune pathway, comparison with suitable controls, and reversal after correcting the variant or restoring the gene product. Does the NGS-based cohort report evidence at that level, or are its correlations primarily clinical and genetic?
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