A new UK NHS bioinformatics framework provides updated best-practice recommendations for high-throughput sequencing in rare disease and cancer diagnosis. Addressing the full diagnostic pipeline, from data quality to interpretation and knowledge sharing, it provides a practical foundation for more consistent and equitable clinical genomics. It aligns bioinformatics practice with the growing scale and complexity of […]
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Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort (Contributed by Chanatjit Cheawsamoot)
Severe childhood epilepsies with developmental delay, known as developmental and epileptic encephalopathies (DEE), are often caused by genetic changes. However, standard DNA tests, such as exome sequencing and short-read genome sequencing, sometimes fail to identify the underlying genetic cause. In this study, we used long-read genome sequencing (LR-GS) to analyze patients with DEE who remained […]
Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers (Contributed by Prof. Rani Elkon)
BRCA1 is the major risk gene for breast cancer. However, not all women who carry harmful BRCA1 mutations (‘BRCA1 carriers’) develop breast cancer, and those who do can be diagnosed at very different ages, suggesting that additional factors influence the risk of BRCA1 carriers. This study analyzed the protein-coding genes of 321 Israeli women who […]
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)
Von Hippel-Lindau (VHL) syndrome is a disorder that puts patients at increased risk of developing benign and malignant tumors within various organs. While current genetic tests demonstrate successful detection of minor mutations, large structural rearrangements of the genome are undetectable by existing tests, indicating need for custom test to confirm these large alterations. We validated […]
Field Watch: FDA’s genome-editing guidance
The FDA’s new draft guidance on safety assessment for human genome-editing therapies reflects increasing regulatory attention to off-target edits, chromosomal alterations, and sequencing-based approaches to safety evaluation. It gives a sense of the questions likely to shape the next stage of clinical development, particularly how unintended genomic effects are detected, interpreted, and weighed. As genome […]
Optical Genome Mapping Identifies Previously Undetected Causal Variants in Early-Onset Developmental Epileptic Encephalopathies (Contributed by Sanem Yilmaz)
Developmental epileptic encephalopathies (DEEs) are severe childhood conditions that cause early-onset seizures and developmental delay. Although genetic testing can identify a cause in many patients, some remain undiagnosed despite extensive investigations. In this study, we used a newer method called optical genome mapping (OGM), which can detect certain genetic changes missed by standard tests. Among […]
Clinical Characteristics and Prognosis of SDHD Pathogenic Variant Carriers: A Systematic Review and Meta-Analysis (Contributed by Professor Bo Shen)
Individuals with an inherited pathogenic variant in the SDHD gene are at risk of developing rare tumours known as PPGLs. Our study synthesized global research to clarify how this cancer risk evolves across a patient’s lifetime. We found that the likelihood of developing a tumour rises significantly with age, reaching 82% by the age of […]
JMG investigated and acted
JMG acted: a guest-edited special issue was retracted following an investigation into concerns about the integrity of peer review and editorial handling. The journal remains committed to rigorous editorial standards and research integrity (https://jmg.bmj.com/content/early/2026/04/12/jmg-2026-56-1-2019ret). […]
ACAN-related disorder, antenatal presentation and phenotypic variability: A Case Series (Contributed by Dr Nikhil Pattani)
ACAN-related disorder may present as a non-syndromic cause of short stature or a skeletal dysplasia. Advanced bone age is considered its unique characteristic. Our study investigated four paediatric and five adult patients across four affected families, possessing two previously reported and two novel ACAN variants. Of the children, one presented before birth with shortened long […]
Journal Watch: Base Editing of HBG1 and HBG2 Promoters in Sickle Cell Disease
In a recent report published in the New England Journal of Medicine, Gupta, Sharma, Frangoul, Kanter, Mapara, Dalal, Alavi, and colleagues described interim results from the phase 1–2 BEACON study evaluating ristoglogene autogetemcel (risto-cel) in patients with sickle cell disease. This base-editing approach targets the HBG1 and HBG2 promoters to increase fetal hemoglobin production while […]