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Author

D. Bunyan

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Open access Sep 2026

Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.

The 100,000 Genomes Project (100KGP) undertook genome sequencing of patients with rare diseases and cancer to study the role that genes play in disease, and to integrate genomics into UK healthcare. To contribute to 100KGP, the Wales Genomic Medicine Centre (a partnership between the NHS All Wales Medical Genomics Serv...

J. Ježková, M. Mcclatchey, Sophie Shaw et al. · 0 citations
Aug 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) research consortium conducted a comprehensive study to characterize spliceogenic variants in BRCA1 exon 18, indicating the degree of splice perturbation required to impair BRCA1 function may depend on the nature of the resulting non-f...

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L. S. Mesman et al. · 0 citations

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