Dolin R, Heale BSE, Gupta R, et al. Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants. Learning health systems. 2023;7(4):e10385. doi:10.1002/lrh2.10385
Publications
Stewart H, Lu Y, O’Keefe S, et al. The SARS-CoV-2 protein ORF3c is a mitochondrial modulator of innate immunity. iScience. 2023;26(11):108080. doi:10.1016/j.isci.2023.108080
Suzuki K, Hatzikotoulas K, Southam L, et al. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.31.23287839
Der Li Y, Ma MW, Hassan MM, et al. Template-assisted covalent modification of DCAF16 underlies activity of BRD4 molecular glue degraders. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.02.14.528208
Chen S, Neale BM, Berkovic SF, . Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.22.23286310
Miller-Fleming TW, Allos A, Gantz E, et al. Developing a Phenotype Risk Score for Tic Disorders in a Large, Clinical Biobank. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.21.23286253
Prapiadou S, Živković L, Thorand B, et al. Proteogenomic integration reveals CXCL10 as a potentially downstream causal mediator for IL-6 signaling on atherosclerosis. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.24.23287543
Truong B, Hull LE, Ruan Y, et al. Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.21.23286110
Elliott A, Walters RK, Pirinen M, et al. Distinct and shared genetic architectures of Gestational diabetes mellitus and Type 2 Diabetes Mellitus. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.16.23286014
Seaby EG, Leggatt G, Cheng G, et al. A gene pathogenicity tool ’GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.21.23287545