Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project
Martin Bird, Antoine Rimbert, Alan M Pittman, et al.
DOI: https://doi.org/10.1093/eurjpc/zwae371
Origins and impact of extrachromosomal DNA
Chris Bailey, Oriol Pich, Kerstin Thol, et al.
Nature
DOI: https://doi.org/10.1038/s41586-024-08107-3
“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project
Bethany Stafford-Smith, Jana Gurashashvilli, Michelle Peter, et al.
European Journal of Human Genetics
DOI: https://doi.org/10.1038/s41431-024-01716-6
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
Ivone U.S. Leong, Claudia P. Cabrera, Valentina Cipriani, et al.
DOI: https://doi.org/10.1200/JCO.23.02761
The potential clinical utility of Whole Genome Sequencing for patients with cancer: evaluation of a regional implementation of the 100,000 Genomes Project
Elaine Y. L. Leung, Helen L. Robbins, Shafquat Zaman, et al.
British Journal of Cancer
DOI: https://doi.org/10.1038/s41416-024-02890-6