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Genetics essentials
The language of DNA, genes, chromosomes and inheritance.
MAKING SENSE OF RESULTS
Testing & counselling
Understand genetic tests, their possibilities and their limits.
THE SCIENCE IN CONTEXT
Research & discovery
Explore methods, emerging technologies and the evidence behind discovery.
PEOPLE & FAMILIES
Family & rare conditions
Pregnancy, childhood, inherited conditions and the diagnostic journey.
RISK & UNDERSTANDING
Cancer genetics
Inherited predisposition, tumour testing and the questions that connect them.
EVIDENCE INTO CARE
Clinical practice
Phenotypes, variants and genomic analysis for health professionals.
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All updates →On the science desk
News and studies from original sources. Follow the headline for the full context.
Taking on the RAS Challenge
C3 Glomerulopathy in Autoinflammatory-Pancytopenia Syndrome: A Case Report.
MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency.
Innovation and practices on case-based genetics teaching focusing on hereditary spastic paraplegia.
Progress on Duchenne muscular dystrophy: from molecular mechanisms to therapeutic strategies.
Early Hematopoietic Stem Cell Transplantation in Type 1 Fucosidosis: Reversal of Central Tegmental Tract Abnormalities.
Growth hormone therapy in Turner syndrome: Do cytogenetic subtypes influence outcomes?
Could Functional Precision Medicine Be the New Precision Oncology?
Medical Genetics explains
The library →Knowledge that connects
CRISPR screens: from a selected hit to a defensible mechanism
A screen identifies candidates under particular experimental conditions; orthogonal evidence is needed before treating a hit as a disease mechanism or therapeutic target.
Functional variant assays: abnormal biology is not automatically pathogenicity
Assay validation, disease mechanism and clinical calibration determine whether a laboratory observation can strengthen variant classification.
DNA methylation episignatures: biomarkers with a defined scope
A reproducible methylation pattern can support a diagnosis, but classifier coverage and validation determine how much it can resolve.
Single-cell genomics: more cells do not replace more participants
Cell atlases reveal biological heterogeneity, but meaningful disease comparisons require sound sampling, batch handling and independent replication.
Long-read sequencing: match the technology to the unresolved mechanism
Longer molecules can clarify structural variation and difficult regions, but analytical validation and study design still determine diagnostic value.
Clinical RNA sequencing: connecting a DNA change to its consequences
Transcriptome analysis can reveal abnormal splicing or expression, but tissue choice and assay context determine what a negative result means.
Testing & counselling
More in this subject →Trio sequencing: what parental samples add to interpretation
Family sequencing can clarify inheritance and reduce the candidate list, while leaving important limits around mosaicism and clinical causality.
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.
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.
Research & discovery
More in this subject →Polygenic scores in clinic: prediction requires calibration and context
A high percentile is not an absolute risk, and strong association does not establish that using a score improves care.
Long-read sequencing: match the technology to the unresolved mechanism
Longer molecules can clarify structural variation and difficult regions, but analytical validation and study design still determine diagnostic value.
Single-cell genomics: more cells do not replace more participants
Cell atlases reveal biological heterogeneity, but meaningful disease comparisons require sound sampling, batch handling and independent replication.
Cancer genetics
More in this subject →Tumour and germline testing: two questions that can intersect
A cancer sequencing result may guide treatment, raise an inherited-risk question, or both—but it cannot be interpreted without knowing the sample and test.
Clinical practice
More in this subject →Clinical RNA sequencing: connecting a DNA change to its consequences
Transcriptome analysis can reveal abnormal splicing or expression, but tissue choice and assay context determine what a negative result means.
ClinVar discordance: investigate the assertions behind the summary
Conflicting classifications are a prompt to inspect evidence, scope and dates rather than count votes.
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.
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