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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: chimirri l. medRxiv [Preprint]. 2024 Nov 7:2024.07.22.24310816. doi: 10.1101/2024.07.22.24310816. medRxiv. 2024. PMID: 39108510 Free PMC article. Preprint.
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease.
Niyonkuru E, Caufield JH, Carmody LC, Gargano MA, Toro S, Whetzel PL, Blau H, Gomez MS, Casiraghi E, Chimirri L, Reese JT, Valentini G, Haendel MA, Mungall CJ, Robinson PN. Niyonkuru E, et al. Among authors: chimirri l. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24310814. doi: 10.1101/2024.08.22.24310814. medRxiv. 2024. PMID: 39228707 Free PMC article. Preprint.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: chimirri l. HGG Adv. 2025 Jan 9;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Epub 2024 Oct 10. HGG Adv. 2025. PMID: 39394689 Free PMC article.