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Year: 2026

Original conceptual illustration: Three parts of a risk claim
Genomic research

Absolute and relative risk: reading a genetics headline

October 23, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: A blood finding needs tissue context
Cancer Genetics

Clonal haematopoiesis: when blood DNA can complicate germline testing

October 23, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: A screen hit is a starting point
Functional genomics

CRISPR screens: from a selected hit to a defensible mechanism

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: From an assay to interpretation
Functional genomics

Functional variant assays: abnormal biology is not automatically pathogenicity

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: Patterns with a defined scope
Epigenetics

DNA methylation episignatures: biomarkers with a defined scope

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: Cells are not independent people
Functional genomics

Single-cell genomics: more cells do not replace more participants

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: Longer reads, focused questions
Genomic technologies

Long-read sequencing: match the technology to the unresolved mechanism

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: From DNA to RNA evidence
Molecular diagnostics

Clinical RNA sequencing: connecting a DNA change to its consequences

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: What parental samples add
Genomic testing

Trio sequencing: what parental samples add to interpretation

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Original conceptual illustration: Related tests, different questions
Cancer Genetics

Tumour and germline testing: two questions that can intersect

October 22, 2026 Medical Genetics editorial team Comments Off on 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.

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Posts pagination

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Recent Posts

  • Absolute and relative risk: reading a genetics headline
  • Clonal haematopoiesis: when blood DNA can complicate germline testing
  • CRISPR screens: from a selected hit to a defensible mechanism
  • Functional variant assays: abnormal biology is not automatically pathogenicity
  • DNA methylation episignatures: biomarkers with a defined scope

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