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

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

Surgically Treated Non-Unions and Fractures of the Femur and Tibia in Adults: A Nationwide Analysis of 888,442 Cases from the German InEK Database

成人股骨和胫骨骨折及骨不连的手术治疗:一项基于德国InEK数据库888,442例病例的全国性分析

Graefe, Niklas; Matrisch, Ludwig; Findeisen, Sebastian; Grossner, Tobias; Streblow, Jan; Ferbert, Thomas; Schmidmaier, Gerhard; Bewersdorf, Tim Niklas

Revisiting the Sectoral Cleavage in Canada: Evidence From the Canadian Election Studies

重新审视加拿大的部门分歧:来自加拿大选举研究的证据

Polacko, Matthew; Graefe, Peter; Kiss, Simon

Exploring the Swimming and Water Safety Behaviour Among Indian and Vietnamese Adults in Australia

澳大利亚印度裔和越南裔成年人游泳和水上安全行为调查

Low, Lian; Graefe, Hannah L M; Willcox-Pidgeon, Stacey M; Barnett, Lisa M

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

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

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

基于本体的罕见病通用数据模型,协调国际注册库、FHIR 和 Phenopackets。

Graefe, Adam S L; Hübner, Miriam R; Rehburg, Filip; Sander, Steffen; Klopfenstein, Sophie A I; Alkarkoukly, Samer; Grönke, Ana; Weyersberg, Annic; Danis, Daniel; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Wiegand, Susanna; Kühnen, Peter; Robinson, Peter N; Beyan, Oya; Thun, Sylvia

Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine

基于FHIR的基因组学——一项支持国家基因组医学战略的可行性研究

Haffer, Nina; Stellmach, Caroline; Sass, Julian; Muzoora, Michael R; Graefe, Adam S L; Thun, Sylvia; Vorisek, Carina N