It is really interesting to chart the increase in sophistication and depth in the rare disease community as we bring forward the "genotype early" or even "genotype first" diagnosis pathways, where as "genotype late" was the more common approach >>>
Ewan Birney
Caroline Wright
🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026
Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals
Careful variant & phenotype curation matters
In clinically unselected populations, disease risk can be ⬇️ than traditional estimates.
#Genomics
