Find out more about publications arising from research on National Genomic Research Library data. For any questions, please contact us via email.
381 publications
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.
Origins and impact of extrachromosomal DNA
Chris Bailey, Oriol Pich, Kerstin Thol, et al.
“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.
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.
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.