日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

系统性基准测试表明,大型语言模型尚未达到传统罕见病决策支持工具的诊断准确率。

Reese, Justin T; Chimirri, Leonardo; Bridges, Yasemin; Danis, Daniel; Caufield, J Harry; Gargano, Michael A; Kroll, Carlo; Schmeder, Andrew; Liu, Fengchen; Wissink, Kyran; McMurry, Julie A; Graefe, Adam S L; Niyonkuru, Enock; Korn, Daniel R; Casiraghi, Elena; Valentini, Giorgio; Jacobsen, Julius O B; Haendel, Melissa; Smedley, Damian; Mungall, Christopher J; Robinson, Peter N

LinkML: an open data modeling framework

LinkML:一个开放的数据建模框架

Moxon, Sierra A T; Solbrig, Harold; Harris, Nomi L; Kalita, Patrick; Miller, Mark A; Patil, Sujay; Schaper, Kevin; Bizon, Chris; Caufield, J Harry; Cuesta, Silvano Cirujano; Cox, Corey; Dekervel, Frank; Dooley, Damion M; Duncan, William D; Fliss, Tim; Gehrke, Sarah; Graefe, Adam S L; Hegde, Harshad; Ireland, A J; Jacobsen, Julius O B; Krishnamurthy, Madan; Kroll, Carlo; Linke, David; Ly, Ryan; Matentzoglu, Nicolas; Overton, James A; Saunders, Jonny L; Unni, Deepak R; Vaidya, Gaurav; Vierdag, Wouter-Michiel A M; Ruebel, Oliver; Chute, Christopher G; Brush, Matthew H; Haendel, Melissa A; Mungall, Christopher J

BioPortal: an open community resource for sharing, searching, and utilizing biomedical ontologies

BioPortal:一个用于共享、搜索和利用生物医学本体的开放社区资源

Vendetti, Jennifer; Harris, Nomi L; Dorf, Michael V; Skrenchuk, Alex; Caufield, J Harry; Gonçalves, Rafael S; Graybeal, John B; Hegde, Harshad; Redmond, Timothy; Mungall, Christopher J; Musen, Mark A

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

大型语言模型在十种语言和 4917 个病例的罕见病诊断中表现出一致的性能

Chimirri, Leonardo; Caufield, J Harry; Bridges, Yasemin; Matentzoglu, Nicolas; Gargano, Michael; Cazalla, Mario; Chen, Shihan; Danis, Daniel; Dingemans, Alexander J M; Gehle, Klara; Gehle, Petra; Graefe, Adam S L; Gu, Weihong; Ladewig, Markus S; Lapunzina, Pablo; Nevado, Julián; Niyonkuru, Enock; Ogishima, Soichi; Seelow, Dominik; Tenorio Castaño, Jair A; Turnovec, Marek; de Vries, Bert B A; Wang, Kai; Wissink, Kyran; Yüksel, Zafer; Zucca, Gabriele; Haendel, Melissa A; Mungall, Christopher J; Reese, Justin; Robinson, Peter N

Leveraging generative AI to assist biocuration of medical actions for rare disease

利用生成式人工智能辅助罕见病医疗措施的生物信息学整理

Niyonkuru, Enock; Caufield, J Harry; Carmody, Leigh C; Gargano, Michael A; Toro, Sabrina; Whetzel, Patricia L; Blau, Hannah; Soto Gomez, Mauricio; Casiraghi, Elena; Chimirri, Leonardo; Reese, Justin T; Valentini, Giorgio; Haendel, Melissa A; Mungall, Christopher J; Robinson, Peter N

Back to the Future: Long-Term Leadership Lessons From the COVID-19 Pandemic

回到未来:从新冠疫情中汲取的长期领导力经验

Frankel, Richard; Brogley Webb, Jordan; Bowen, John; Mehta, Neil; Isaacson, J Harry

The Human Phenotype Ontology in 2024: phenotypes around the world

2024 年人类表型本体论:世界各地的表型

Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, Jolana; Callahan, Tiffany J; Cameron, Rhiannon; Carbon, Seth J; Castellanos, Francisco; Caufield, J Harry; Chan, Lauren E; Chute, Christopher G; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon R; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B A; de Vries, Esther; DePaulo, J Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J M; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen V; Freudenberg-Hua, Yun; Fullerton, Janice M; Gabriel, Davera L; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O B; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A; Kraus, Megan L; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L; Martinez-Glez, Victor; McHenry, Toby H; McInnis, Melvin G; McMurry, Julie A; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; Nurnberger, John I Jr; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M; Roy, Suzy; Sanders, Stephan J; Schuetz, Catharina; Schulte, Eva C; Schulze, Thomas G; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N; Simon, Eric S; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L; Smolinsky, Jake T; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A; Tesner, Pavel; Thomas, Rhys H; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E; Vasilevsky, Nicole A; Vlčková, Markéta; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S; Wiafe, Addo A; Wiafe, Samuel A; Wiggins, Lisa D; Williams, Andrew E; Wu, Chen; Wyrwoll, Margot J; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N; Yocum, Anastasia K; Young, Allan H; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N

Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes

可概括的长期新冠亚型:来自美国国立卫生研究院 N3C 和 RECOVER 项目的研究结果

Reese, Justin T; Blau, Hannah; Casiraghi, Elena; Bergquist, Timothy; Loomba, Johanna J; Callahan, Tiffany J; Laraway, Bryan; Antonescu, Corneliu; Coleman, Ben; Gargano, Michael; Wilkins, Kenneth J; Cappelletti, Luca; Fontana, Tommaso; Ammar, Nariman; Antony, Blessy; Murali, T M; Caufield, J Harry; Karlebach, Guy; McMurry, Julie A; Williams, Andrew; Moffitt, Richard; Banerjee, Jineta; Solomonides, Anthony E; Davis, Hannah; Kostka, Kristin; Valentini, Giorgio; Sahner, David; Chute, Christopher G; Madlock-Brown, Charisse; Haendel, Melissa A; Robinson, Peter N

A Second Look at FAIR in Proteomic Investigations

重新审视蛋白质组学研究中的 FAIR 方法

Caufield, J Harry; Fu, John; Wang, Ding; Guevara-Gonzalez, Vladimir; Wang, Wei; Ping, Peipei

The novel E. coli cell division protein, YtfB, plays a role in eukaryotic cell adhesion

新型大肠杆菌细胞分裂蛋白YtfB在真核细胞粘附中发挥作用

Amy L Bottomley, Elizabeth Peterson, Gregory Iosifidis, Adeline Mei Hui Yong, Lauren E Hartley-Tassell, Shirin Ansari, Chris McKenzie, Catherine Burke, Iain G Duggin, Kimberly A Kline, Elizabeth J Harry