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

Medicines, Diseases, Indications, and Contraindications (MeDIC): a foundational resource to support drug repurposing

药物、疾病、适应症和禁忌症(MeDIC):支持药物再利用的基础资源

DeLuca, Marcello; Matentzoglu, Nico; Sharp, Elliott; Li, Jane; Hempstead, Charlie; Lim, May; Kaniewski, Piotr; Carter, E Kathleen; Koirala, Kushal; Ding, Elvin; Vijnck, Laurens; Brokmeier, Pascal; Toro, Sabrina; Schaper, Kevin; Vergine, Jacques; Li, Olivia; Oprea, Tudor I; Fajgenbaum, David C; Bizon, Christopher; Haendel, Melissa; Tropsha, Alexander

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

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

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

Suggestions for extending the FAIR Principles based on a linguistic perspective on semantic interoperability

基于语义互操作性的语言学视角,对扩展 FAIR 原则的建议

Vogt, Lars; Strömert, Philip; Matentzoglu, Nicolas; Karam, Naouel; Konrad, Marcel; Prinz, Manuel; Baum, Roman

The Unified Phenotype Ontology : a framework for cross-species integrative phenomics

统一表型本体:跨物种整合表型组学的框架

Matentzoglu, Nicolas; Bello, Susan M; Stefancsik, Ray; Alghamdi, Sarah M; Anagnostopoulos, Anna V; Balhoff, James P; Balk, Meghan A; Bradford, Yvonne M; Bridges, Yasemin; Callahan, Tiffany J; Caufield, Harry; Cuzick, Alayne; Carmody, Leigh C; Caron, Anita R; de Souza, Vinicius; Engel, Stacia R; Fey, Petra; Fisher, Malcolm; Gehrke, Sarah; Grove, Christian; Hansen, Peter; Harris, Nomi L; Harris, Midori A; Harris, Laura; Ibrahim, Arwa; Jacobsen, Julius O B; Köhler, Sebastian; McMurry, Julie A; Munoz-Fuentes, Violeta; Munoz-Torres, Monica C; Parkinson, Helen; Pendlington, Zoë M; Pilgrim, Clare; Robb, Sofia M C; Robinson, Peter N; Seager, James; Segerdell, Erik; Smedley, Damian; Sollis, Elliot; Toro, Sabrina; Vasilevsky, Nicole; Wood, Valerie; Haendel, Melissa A; Mungall, Christopher J; McLaughlin, James A; Osumi-Sutherland, David

A change language for ontologies and knowledge graphs

一种用于本体和知识图谱的变更语言

Hegde, Harshad; Vendetti, Jennifer; Goutte-Gattat, Damien; Caufield, J Harry; Graybeal, John B; Harris, Nomi L; Karam, Naouel; Kindermann, Christian; Matentzoglu, Nicolas; Overton, James A; Musen, Mark A; Mungall, Christopher J

Increased discoverability of rare disease datasets through knowledge graph integration

通过知识图谱整合提高罕见病数据集的可发现性

Braun, Ian; Hartley, Emily; Olson, Daniel; Matentzoglu, Nicolas; Schaper, Kevin; Walls, Ramona; Vasilevsky, Nicole

Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework

构建基于表型的变异和基因优先级排序算法的标准基准:PhEval - 表型推断评估框架

Bridges, Yasemin; Souza, Vinicius de; Cortes, Katherina G; Haendel, Melissa; Harris, Nomi L; Korn, Daniel R; Marinakis, Nikolaos M; Matentzoglu, Nicolas; McLaughlin, James A; Mungall, Christopher J; Odell, Aaron; Osumi-Sutherland, David; Robinson, Peter N; Smedley, Damian; Jacobsen, Julius O B

Expanding and refining the Mammalian Phenotype Ontology to enhance disease model discovery

扩展和完善哺乳动物表型本体论,以增强疾病模型发现能力。

Bello, Susan M; Anagnostopoulos, Anna V; Carmody, Leigh C; Matentzoglu, Nicolas; Smith, Cynthia L