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

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

Population-wide introduction of dose-adjusted EPOCH-R in high-grade B-cell lymphoma with MYC/BCL2 rearrangements, DLBCL morphology

在具有 MYC/BCL2 重排的高级别 B 细胞淋巴瘤、DLBCL 形态学中,广泛推广剂量调整后的 EPOCH-R 方案

Alduaij, Waleed; Sehn, Laurie H; Champagne, Jean-Nicolas; Collinge, Brett; Ben-Neriah, Susana; Jiang, Aixiang; Hilton, Laura K; Boyle, Merrill; Meissner, Barbara; Slack, Graham W; Farinha, Pedro; Craig, Jeffrey W; Savage, Kerry J; Villa, Diego; Gerrie, Alina S; Freeman, Ciara L; Mungall, Andrew J; Steidl, Christian; Scott, David W

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

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

Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology

癫痫疾病分类:一项旨在完善 Mondo 疾病本体的社区努力

Vasilevsky, Nicole; Gehrke, Sarah; Mullen, Kathleen; Barua, Subit; Braun, Ian; Brünger, Tobias; Coughlin, Curtis 2nd; Ivaniuk, Alina; Korn, Daniel; Lal, Dennis; Marsh, Stephanie; O'Loughlin, Elaine; Olson, Daniel; Shwetar, Yousif; Sofocleous, Christalena; Vogel-Farley, Vanessa; Grabenstatter, Heidi; Haendel, Melissa; Mungall, Christopher; Toro, Sabrina

A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations

针对范可尼贫血症的定制表型分析:弥补现有疾病注释的不足

Connelly, Evan; Laraway, Bryan; Mullen, Kathleen R; Mungall, Christopher J; Haendel, Melissa A; Hurwitz, Eric G

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

DNA Methylation Epitypes of Burkitt Lymphoma with Distinct Molecular and Clinical Features

具有独特分子和临床特征的伯基特淋巴瘤DNA甲基化表型

Thomas, Nicole; García-Prieto, Carlos A; Dreval, Kostiantyn; Hilton, Laura K; Abramson, Jeremy S; Bartlett, Nancy L; Bethony, Jeffrey; Bowen, Jay; Bryan, Anthony C; Casper, Corey; Dyer, Maureen A; Gastier-Foster, Julie M; Gerrie, Alina S; Greiner, Timothy C; Griner, Nicholas B; Gross, Thomas G; Harris, Nancy; Irvin, John D; Jaffe, Elaine S; Leal, Fabio E; Mbulaiteye, Sam M; Mullighan, Charles G; Mungall, Andrew J; Mungall, Karen L; Namirembe, Constance; Noy, Ariela; Ogwang, Martin D; Orem, Jackson; Ott, German; Petrello, Hilary; Reynolds, Steven J; Swerdlow, Steven H; Traverse-Glehen, Alexandra; Wilson, Wyndham H; Marra, Marco A; Staudt, Louis M; Scott, David W; Esteller, Manel; Morin, Ryan D

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