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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.
Reese JT, Chimirri L, Bridges Y, Danis D, Caufield JH, Wissink K, McMurry JA, Graefe AS, Casiraghi E, Valentini G, Jacobsen JO, Haendel M, Smedley D, Mungall CJ, Robinson PN. Reese JT, et al. Among authors: valentini g. medRxiv [Preprint]. 2024 Nov 7:2024.07.22.24310816. doi: 10.1101/2024.07.22.24310816. medRxiv. 2024. PMID: 39108510 Free PMC article. Preprint.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Smedley D, Schubach M, Jacobsen JOB, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN. Smedley D, et al. Among authors: valentini g. Am J Hum Genet. 2016 Sep 1;99(3):595-606. doi: 10.1016/j.ajhg.2016.07.005. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569544 Free PMC article.
Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer.
Ravanmehr V, Blau H, Cappelletti L, Fontana T, Carmody L, Coleman B, George J, Reese J, Joachimiak M, Bocci G, Hansen P, Bult C, Rueter J, Casiraghi E, Valentini G, Mungall C, Oprea TI, Robinson PN. Ravanmehr V, et al. Among authors: valentini g. NAR Genom Bioinform. 2021 Dec 8;3(4):lqab113. doi: 10.1093/nargab/lqab113. eCollection 2021 Dec. NAR Genom Bioinform. 2021. PMID: 34888523 Free PMC article.
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study.
Reese JT, Coleman B, Chan L, Blau H, Callahan TJ, Cappelletti L, Fontana T, Bradwell KR, Harris NL, Casiraghi E, Valentini G, Karlebach G, Deer R, McMurry JA, Haendel MA, Chute CG, Pfaff E, Moffitt R, Spratt H, Singh JA, Mungall CJ, Williams AE, Robinson PN. Reese JT, et al. Among authors: valentini g. Virol J. 2022 May 15;19(1):84. doi: 10.1186/s12985-022-01813-2. Virol J. 2022. PMID: 35570298 Free PMC article.
657 results