Papers matching “pathogenicity prediction” 265
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Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
2citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
bacLIFE: a user-friendly computational workflow for genome analysis and prediction of lifestyle-associated genes in bacteria2024 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Guillermo Guerrero-Egido, Adrián Pintado, Kevin M. Bretscher, Luisa M. Arias-Giraldo, Joseph Nathaniel Paulson, Herman P. Spaink, +6 more
29citations -
Analysis of BRCA1 , BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, +54 more
1citations -
Polygenic risk modeling for prediction of epithelial ovarian cancer risk2022 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Eileen Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Muriel A. Adank, +60 more
71citations -
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Eileen Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K.H. Aben, +86 more
3citations -
Identification of HLA-E Binding Mycobacterium tuberculosis–Derived Epitopes through Improved Prediction Models2022 The Journal of Immunology article Biochemistry, Genetics and Molecular Biology vaccines and immunoinformatics approaches Open access
Paula Ruibal, Kees L. M. C. Franken, Krista E. van Meijgaarden, Marjolein van Wolfswinkel, Ian Derksen, Ferenc A. Scheeren, +11 more
21citations -
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Mikael Eriksson, Kamila Czene, Andrew Lee, Goska Leslie, Michael J. Lush, +9 more
98citations -
CalcAMP: A New Machine Learning Model for the Accurate Prediction of Antimicrobial Activity of Peptides2023 Antibiotics article Immunology and Microbiology Antimicrobial Peptides and Activities Open access
Colin Bournez, Martijn Riool, Leonie de Boer, Robert A. Cordfunke, Leonie de Best, Remko van Leeuwen, +3 more
45citations -
Interstitial Lung Disease in Patients With Systemic Sclerosis: Toward Personalized-Medicine-Based Prediction and Drug Screening Models of Systemic Sclerosis-Related Interstitial Lung Disease (SSc-ILD)
Padmini P. S. J. Khedoe, Emiel R. Marges, Pieter Sicco Hiemstra, Maarten K. Ninaber, Miranda Geelhoed
24citations -
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction2023 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anja Tüchler, Antoine De Pauw, Corinna Ernst, Amélie Anota, Inge M. M. Lakeman, Julia Dick, +19 more
21citations -
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction2020 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Maaike P.G. Vreeswijk, Haico van Attikum
16citations -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
The future abundance of key bird species for pathogen transmission in the Netherlands2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Environmental Science Species Distribution and Climate Change Open access
Martha Dellar, H. Sierdsema, Peter M. van Bodegom, Maarten Schrama, Gertjan Geerling
2citations -
Molecular Modeling of Protein–Peptide Complexes Mimicking Factor Xa–Prothrombin Using AlphaFold-Multimer and Molecular Dynamics Simulations for Functional Prediction2026 Journal of Chemical Information and Modeling article Medicine Blood Coagulation and Thrombosis Mechanisms
Dejvid Veizaj, David Alonzo Poole III, Ka Lei Cheung, Jos V. Flier, Pieter H. Reitsma, Daniël Verhoef, +2 more
1citations -
1031. Can We Safely Reduce Unnecessary Blood Cultures in Patients with Suspected Infection in the Emergency Department? The PredictED Study to Develop and Validate a Bacteremia Prediction Model
Anna G Kaal, Soufian Meziyerh, Martijn Dane, N.E. Kolfschoten, Ewout Willem Steyerberg, Cees van Nieuwkoop
0citations -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2023 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Taru Muranen, Anna Morra, Sofia Khan, Daniel R. Barnes, Manjeet K. Bolla, Joe Dennis, +61 more
7citations