Karchin R, Radivojac P, O’Donnell-Luria A, Greenblatt MS, Tolstorukov MY, Sonkin D. Improving transparency of computational tools for variant effect prediction. Nature genetics. 2024. doi:10.1038/s41588-024-01821-8
Publications
König LE, Rodriguez S, Hug C, et al. TYK2 as a novel therapeutic target in Alzheimer’s Disease with TDP-43 inclusions. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.04.595773
Bresci A, Kobayashi-Kirschvink KJ, Cerullo G, et al. Label-free morpho-molecular phenotyping of living cancer cells by combined Raman spectroscopy and phase tomography. Communications biology. 2024;7(1):785. doi:10.1038/s42003-024-06496-9
Kentistou KA, Kaisinger LR, Stankovic S, et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature genetics. 2024. doi:10.1038/s41588-024-01798-4
Kentistou KA, Kaisinger LR, Stankovic S, et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature genetics. 2024. doi:10.1038/s41588-024-01798-4
Abou-Karam R, Tanguturi V, Cheng F, Elmariah S. Trial Designs A44002PZS Electronic Physician Notification to Facilitate the Recognition and Management of Severe Aortic Stenosis: Rationale, design, and methods of the randomized controlled DETECT AS Trial. American heart journal. 2024. doi:10.1016/j.ahj.2024.06.009
Conway JR, Gillani R, Crowdis J, et al. Somatic structural variants drive distinct modes of oncogenesis in melanoma. The Journal of clinical investigation. 2024;134(13). doi:10.1172/JCI177270
Di Federico A, Alden SL, Smithy JW, et al. Intrapatient variation in PD-L1 expression and tumor mutational burden and the impact on outcomes to immune checkpoint inhibitor therapy in patients with non-small cell lung cancer. Annals of oncology : official journal of the European Society for Medical Oncology. 2024. doi:10.1016/j.annonc.2024.06.014
Rebboah E, Rezaie N, Williams BA, et al. The ENCODE mouse postnatal developmental time course identifies regulatory programs of cell types and cell states. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.598567
Gudmundsson S, Singer-Berk M, Stenton SL, et al. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.06.12.593113