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
Publications
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
Oja KT, Ilisson M, Reinson K, et al. Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.29.23287640
Mao Y, Harvey WT, Porubsky D, et al. Structurally divergent and recurrently mutated regions of primate genomes. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.07.531415
Sahgal P, Patil DT, Sztupinszki ZM, et al. Replicative stress in gastroesophageal adenocarcinoma is associated with chromosomal instability and sensitivity to DNA damage response inhibitors. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.27.534412
Cadinu P, Sivanathan KN, Misra A, et al. Charting the cellular biogeography in colitis reveals fibroblast trajectories and coordinated spatial remodeling. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.05.08.539701
Harada T, Perez MW, Kalfon J, et al. Rapid-kinetics degron benchmarking reveals off-target activities and mixed agonism-antagonism of MYB inhibitors. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.07.536032
Bull CJ, Hazelwood E, Bell JA, et al. Identifying metabolic features of colorectal cancer liability using Mendelian randomization. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.10.23287084
Roberts AM, DiStefano MT, Riggs ER, et al. Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.30.23287948
Weisburd B, Tiao G, Rehm HL. Insights from a genome-wide truth set of tandem repeat variation. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.05.05.539588