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

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting

第二届原发性免疫缺陷人工智能(AIPI)会议论文集

Rivière, Jacques G; Bastarache, Lisa; Campos, Luiza C; Carot-Sans, Gerard; Chin, Aaron; Chunara, Rumi; Cunningham-Rundles, Charlotte; Erra, Lorenzo; Farmer, Jocelyn; Garcelon, Nicolas; Hsieh, Elena; Leavis, Helen; Lee, Seungwon; Liu, Liangying; Kusters, Maaike; Lloyd, Brian C; Martinson, Alexandra K; Mester, Rachel; Moore, Justin B; Moshous, Despina; Orange, Jordan S; Parrish, Nefatia; Parker, Sarah Henrickson; Pasaniuc, Bogdan; Peng, Xiao P; Pergent, Martine; Piera-Jiménez, Jordi; Quinn, Jessica; Ramesh, Sidharth; Roberts, Kirk; Robinson, Peter N; Savova, Guergana; Scalchunes, Christopher; Seidel, Markus G; Simoneau, Rachel; Soler-Palacin, Pere; Sullivan, Kathleen E; Van Gijn, Marielle; Wi, Chung-Il; Zhou, Dawei; Tenembaum, Vanessa; Butte, Manish J; Rider, Nicholas L

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

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

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

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

对大型语言模型罕见病知识的系统性评估:大型语言模型对罕见病了解多少?

Groza, Tudor; Marcello, Allison J; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N; Graessner, Holm; Chong, Jessica X; Baynam, Gareth; Jamuar, Saumya Shekhar

A Phenotypic Paradigm for Cerebral Palsy Genetics

脑瘫遗传学的表型范式

Arterbery, Adam S; Gargano, Michael A; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam Sl; Arenas-Díaz, Ana L; Bauer, Jeremy P; Blau, Hannah; Carmody, Leigh; Carroll, Kristen L; Davis, Janice; Giampietro, Philip F; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius Ob; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Raney, Ellen M; Shingle, Mallory; Smedley, Damian; Smith, Peter A; Soliman, Demiana A; Westberry, David E; Davids, Jon R; Robinson, Peter N

Information content as a health system screening tool for rare diseases

信息内容作为罕见病健康系统筛查工具

Groza, Tudor; Robinson, Peter N; Lim, Weng Khong; Narasimhalu, Kaavya; Hsieh, Jenny; Yeo, Khung Keong; Keow, Goh Bee; Thomas, Terrence; Wong, Tien Yin; Karnani, Neerja; Baynam, Gareth; Jamuar, Saumya Shekhar

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

Development of self-phenotyping tools to empower patients and improve diagnostics

开发自我表型分析工具,以增强患者自主性并改进诊断

Shefchek, Kent; Ziniel, Sonja I; McMurry, Julie A; Brownstein, Catherine A; Brownstein, John S; Riggs, Erin Rooney; Might, Matthew; Smedley, Damian; Clugston, Amy; Beggs, Alan H; Paterson, Heather; Robinson, Peter N; Vasilevsky, Nicole A; Holm, Ingrid A; Haendel, Melissa A

Integrating Knowledge: The Power of Ontologies in Psychiatric Research and Clinical Informatics

整合知识:本体在精神病学研究和临床信息学中的力量

McInnis, Melvin G; Coleman, Ben; Hurwitz, Eric; Robinson, Peter N; Williams, Andrew E; Haendel, Melissa A; McMurry, Julie A