Rare-disease data sharing: make data useful without treating access as unlimited
FAIR principles and responsible governance can support discovery while preserving consent, privacy and accountability.
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20 articles
From GWAS signal to mechanism: why the nearest gene is not the answer
Association identifies a genomic neighborhood; causal variants, target genes and biological effects require additional evidence.
Gene–disease validity: establish the association before classifying a candidate
A plausible variant cannot compensate for an uncertain relationship between the gene and the proposed disorder.
ClinVar discordance: investigate the assertions behind the summary
Conflicting classifications are a prompt to inspect evidence, scope and dates rather than count votes.
Population reference datasets: rarity, constraint and ancestry in context
Reference databases are essential for variant interpretation, but absence, group labels and gene-level constraint each require careful qualification.
What makes a genetic result clinically actionable?
Finding a DNA change is only part of the question. Clinical actionability asks whether reliable evidence supports a useful response to that finding.
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.
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.