Papers matching “pathogenicity prediction” 190
Not finding it? Sign in to also search OpenAlex live.
-
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 -
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 -
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 -
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 -
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 -
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inge M. M. Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E. Braspenning, Klaartje van Engelen, +11 more
37citations -
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, +15 more
15citations -
Torque teno virus loads after kidney transplantation predict allograft rejection but not viral infection2021 Journal of Clinical Virology article Medicine Renal Transplantation Outcomes and Treatments Open access
Aline L. van Rijn, Herman F. Wunderink, Igor A. Sidorov, Caroline S. van der Blij-de Brouwer, Aloys C.M. Kroes, Hein Putter, +3 more
75citations -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies2022 eLife article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L. Harteveld, Celeste Bento, +10 more
15citations -
Performance of Five Metagenomic Classifiers for Virus Pathogen Detection Using Respiratory Samples from a Clinical Cohort2022 Pathogens article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ellen C. Carbo, Igor A. Sidorov, Anneloes L. van Rijn-Klink, Sander van Boheemen, Hailiang Mei, Pieter Sicco Hiemstra, +4 more
14citations