Phenotype-driven diagnosis: turning a clinical story into a testable hypothesis
A practical framework for combining evolving clinical findings with genomic evidence without overvaluing a software ranking.
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129 articles
HPO phenotyping: specificity, timing and the meaning of absence
How to create a useful structured phenotype while preserving the context that an ontology cannot replace.
Repeat-expansion testing: what a negative exome or genome can miss
Read repeat-expansion reports: test scope, detection versus sizing, DMPK and FMR1 examples, and what a negative exome or genome result leaves unresolved.
Diagnostic reanalysis: a service, not just another software run
New knowledge can change an old genomic result, but a useful reanalysis program also needs clinical updates and responsibility for follow-up.
Segregation evidence: count informative inheritance, not just relatives
Family data can support a variant interpretation, but penetrance, phenotype definition and linked variants change its evidential weight.
Down syndrome: chromosome results, individual development and family questions
Understand the chromosome changes behind Down syndrome, what testing can establish, why individual outcomes vary and how established care differs from research.
Hereditary hemorrhagic telangiectasia: connect nosebleeds with vascular assessment
Recognize HHT across specialties, interpret age-dependent diagnostic findings and genetic results, and distinguish bleeding treatment from assessment of internal vascular malformations.
Facioscapulohumeral muscular dystrophy: interpreting D4Z4 testing in clinic
FSHD diagnosis requires more than a sequence variant. Connect the muscle phenotype with repeat structure, chromosome context and the limits of predicting severity.
Stargardt disease: connect ABCA4 findings with the retinal phenotype
Stargardt research requires precise genetic and visual phenotyping. A disease label alone does not establish inheritance, progression or treatment benefit.
Turner syndrome: chromosome findings and lifelong health
Turner syndrome involves missing or altered X chromosome material. Understand what testing explains, why health needs vary and how care extends beyond growth and puberty.
Variant of uncertain significance (VUS): what it means and what to do next
Understand a VUS with practical examples, family-testing questions, ClinVar conflicts and a clear plan for follow-up and possible reclassification.
Exome versus genome sequencing: choosing the test that answers your question
Compare exome and genome sequencing with practical examples, reanalysis options, testing limitations and a guide to interpreting diagnostic yield.