Genomic testing
Pseudogene interference: establish which DNA your assay measured
CYP21A2 illustrates how similar DNA sequences and complex gene structures challenge genetic analysis—and why research methods need locus-specific validation.
Month: October 2026
Rare disease diagnosis
Genomic imprinting: why parental origin changes the diagnostic question
Imprinting disorders require attention to gene activity and parental origin as well as DNA sequence. Chromosome 15 illustrates the implications for testing and recurrence counselling.