Claussnitzer M, Parikh VN, Wagner AH, et al. Minimum information and guidelines for reporting a multiplexed assay of variant effect. Genome biology. 2024;25(1):100. doi:10.1186/s13059-024-03223-9PubMedGoogle ScholarDOI
Publications
Yoon J, Zhang YM, Her C, et al. The immune-evasive proline-283 substitution in influenza nucleoprotein increases aggregation propensity without altering the native structure. Science advances. 2024;10(16):eadl6144. doi:10.1126/sciadv.adl6144PubMedGoogle ScholarDOI
Kalinin AA, Arevalo J, Vulliard L, et al. A versatile information retrieval framework for evaluating profile strength and similarity. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.04.01.587631PubMedGoogle ScholarDOI
Ding J, Garber JJ, Uchida A, et al. An esophagus cell atlas reveals dynamic rewiring during active eosinophilic esophagitis and remission. Nature communications. 2024;15(1):3344. doi:10.1038/s41467-024-47647-0PubMedGoogle ScholarDOI
Nievergelt CM, Maihofer AX, Atkinson EG, et al. Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. Nature genetics. 2024. doi:10.1038/s41588-024-01707-9PubMedGoogle ScholarDOI
Leisman DE, Handisides DR, Busse LW, et al. ACE inhibitors and angiotensin receptor blockers differentially alter the response to angiotensin II treatment in vasodilatory shock. Critical care (London, England). 2024;28(1):130. doi:10.1186/s13054-024-04910-6PubMedGoogle ScholarDOI
Kuznetsova KG, Vašíček J, Skiadopoulou D, et al. Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes. PloS one. 2024;19(4):e0300350. doi:10.1371/journal.pone.0300350PubMedGoogle ScholarDOI
Toikumo S, Jennings M V, Pham BK, et al. Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes. Nature human behaviour. 2024. doi:10.1038/s41562-024-01851-6PubMedGoogle ScholarDOI
Minikel EV, Painter JL, Dong CC, Nelson MR. Refining the impact of genetic evidence on clinical success. Nature. 2024. doi:10.1038/s41586-024-07316-0PubMedGoogle ScholarDOI
Minikel EV, Painter JL, Dong CC, Nelson MR. Refining the impact of genetic evidence on clinical success. Nature. 2024. doi:10.1038/s41586-024-07316-0PubMedGoogle ScholarDOI