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
Publications
Ganz J, Luquette LJ, Bizzotto S, et al. Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.14.523958
Kwak SH, Hernandez-Cancela RB, DiCorpo DA, et al. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.07.25.23293180
Kwak SH, Hernandez-Cancela RB, DiCorpo DA, et al. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.07.25.23293180
Kobayashi T, Young C, Zhou W, Rhee EP. Reduced glycolysis links resting zone chondrocyte proliferation in the growth plate. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.18.524550
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
Kang JB, Shen AZ, Sakaue S, et al. Mapping the dynamic genetic regulatory architecture of genes at single-cell resolution. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.14.23287257
Han S, Camp SY, Chu H, et al. Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.01.18.23284664
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
Anvar NE, Lin C, Ma X, et al. Efficient gene knockout and genetic interactions: the IN4MER CRISPR/Cas12a multiplex knockout platform. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.03.522655