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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
Machine Learning Integrating Quantitative MRI and Clinical Features Predicts Loss of Ambulation in Duchenne Muscular Dystrophy.
Hyperpolarized Xenon 129 MRI to Evaluate Regional Gas-Exchange Abnormalities in Cystic Fibrosis Lung Disease.
Longitudinal Characterization of the Microbiological Status in Primary Ciliary Dyskinesia: An Italian Multicentre Study.
Variable Phenotypic Manifestations of Novel Compound Heterozygous CRPPA Variants in Two Iranian Siblings With Limb-Girdle Muscular Dystrophy.
Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund-Thomson Syndrome: Case Report and Literature Review.
Could Functional Precision Medicine Be the New Precision Oncology?
Medical Genetics explains
The library →Knowledge that connects
What a genetic test can miss: analytical sensitivity in context
A test can accurately detect the changes it was designed to find while missing others. Scope, coverage and sample choice help explain what a negative result means.
Functional precision oncology: testing cells, then testing clinical value
An NCI research agenda highlights living-cell drug testing alongside genomics. A pediatric feasibility study shows why useful laboratory results still require stronger clinical evidence.
Absolute and relative risk: reading a genetics headline
A relative increase needs a baseline, a timeframe and a defined outcome. Learn how to read genetic risk claims without turning population estimates into personal predictions.
Clonal haematopoiesis: when blood DNA can complicate germline testing
A pathogenic variant detected in blood may be acquired in blood-forming cells. Establishing its origin can change cancer-risk assessment, family testing and specimen selection.
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.
Testing & counselling
More in this subject →What a genetic test can miss: analytical sensitivity in context
A test can accurately detect the changes it was designed to find while missing others. Scope, coverage and sample choice help explain what a negative result means.
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.
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 →Functional precision oncology: testing cells, then testing clinical value
An NCI research agenda highlights living-cell drug testing alongside genomics. A pediatric feasibility study shows why useful laboratory results still require stronger clinical evidence.
Clonal haematopoiesis: when blood DNA can complicate germline testing
A pathogenic variant detected in blood may be acquired in blood-forming cells. Establishing its origin can change cancer-risk assessment, family testing and specimen selection.
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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