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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Windy Berkofsky‐Fessler, Sandrine M. Caputo, +36 more
6citations -
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin, Bryony A. Thompson, Susan Mary Farrington, Lauren B. Currie, +29 more
7citations -
UnitRefine: A Community Toolbox for Automated Spike Sorting Curation2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Neuroscience and Neural Engineering Open access
Anoushka Jain, Chris Halcrow, Alexander Kleinjohann, Federico Spurio, Severin Graff, Jüergen Gall, +3 more
5citations -
WALDO: community-Wide Annotation of γδ Lymphocytes in single-cell Data, Openly benchmarked2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Farid Keramati, Moosa Rezwani, Likai Tan, David Hamilton, Zheng Song, Tao Yang, +10 more
0citations -
Agentic retrieval-augmented reasoning reshapes collective reliability under model variability in radiology question answering2026 arXiv (Cornell University) preprint Medicine Artificial Intelligence in Healthcare and Education Open access
Mina Farajiamiri, Jeta Sopa, Saba Afza, Lisa C. Adams, Felix Barajas Ordonez, Tri-Thien Nguyen, +6 more
0citations -
Agentic retrieval-augmented reasoning reshapes collective reliability under model variability in radiology question answering2026 arXiv (Cornell University) preprint Medicine Artificial Intelligence in Healthcare and Education Open access
Mina Farajiamiri, Jeta Sopa, Saba Afza, Lisa Adams, Felix Barajas Ordonez, Tri-Thien Nguyen, +6 more
0citations -
Global Root Traits (GRooT) Database2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Environmental Science Ecology and Vegetation Dynamics Studies Open access
Nathaly R. Guerrero‐Ramírez, Liesje Mommer, Grégoire T. Freschet, Colleen Marie Iversen, Michael McCormack, Jens Kattge, +43 more
8citations -
Large-Language Models for data extraction from written kidney biopsy reports2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Leon Niggemeier, David Laurin Hölscher, Tim CJ Herkens, Philine Gilles, Peter Böör, Roman David Bülow
1citations -
Ontology pre-training improves machine learning-based predictions for metabolites2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Computer Science Computational Drug Discovery Methods Open access
Charlotte Tumescheit, Martin Glauer, Simon Flügel, Martin F. Larralde, Fabian Neuhaus, Till Mossakowski, +1 more
0citations -
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
0citations
17 results