Papers matching “pathogenicity prediction” 49
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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 -
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 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 -
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 -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2022 Research Square preprint 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, +62 more
0citations -
Performance of five metagenomic classifiers for virus pathogen detection using respiratory samples from a clinical cohort2022 medRxiv preprint 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
4citations -
Genome-wide alternative splicing profiling in the fungal plant pathogen Sclerotinia sclerotiorum during the colonization of diverse host families2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Plant pathogens and resistance mechanisms Open access
Heba M. M. Ibrahim, Stefan Kusch, Marie Didelon, Sylvain Raffaele
2citations -
The genetic diversity of the soybean rust pathogen Phakopsora pachyrhizi has been driven by two major evolutionary lineages2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Yeasts and Rust Fungi Studies Open access
Vinícius Delgado da Rocha, Everton Geraldo Capote Ferreira, Fernanda Machado Castanho, Marcia Kamogae Kuwahara, Claudia Vieira Godoy, M. C. Meyer, +10 more
2citations -
Carriers of SCN9A variants linked to inherited and acquired pain syndromes show no alteration in the prevalence of pain or analgesic usage in the UK Biobank cohort2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Graeme W. T. Newton, Corin Charman, Aidan P. Nickerson, Keith Geoffrey Phillips, Achim Kless, James Philip Dunham, +1 more
2citations -
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies2022 bioRxiv (Cold Spring Harbor Laboratory) preprint 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
0citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
2citations -
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 -
Identification and characterization of diverse OTU deubiquitinases in bacteria2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access
Alexander F. Schubert, Justine V. Nguyen, Tyler G. Franklin, Paul P. Geurink, Cameron G. Roberts, Daniel J. Sanderson, +5 more
5citations -
Wheat blast caused by Magnaporthe oryzae pv. Triticum is efficiently controlled by the plant defence inducer isotianil2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Fungal Plant Pathogen Control Open access
Katharina Portz, Florencia Casanova, Angelina Jordine, Stefan Bohnert, Andréas Mehl, Daniela Portz, +1 more
0citations -
Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
Transient RNA structures underlie highly pathogenic avian influenza virus genesis2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Influenza Virus Research Studies Open access
Mathis Funk, Monique I. J. Spronken, Theo M. Bestebroer, Anja C. M. de Bruin, Alexander P. Gultyaev, Ron A. M. Fouchier, +2 more
3citations -
KIF23 regulation by miR-107 controls replicative tumor cell fitness in mouse and human hepatocellular carcinoma2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology MicroRNA in disease regulation Open access
Sanchari Roy, Carolin Lohr, Rossella Pellegrino, Mihael Vucur, Michael T. Singer, Veronika Buettner, +7 more
0citations -
Outer Pore Collapse as a Potential Mechanism of Partial Loss of Pain in Nav1.7 M899I2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Vishal Sudha Bhagavath Eswaran, Estefania Torres-Ortiz, Petra A. I. Hautvast, Amdiya Botchoi, Silvia Detro‐Dassen, Anika Neureiter, +2 more
0citations -
Benchmark of thirteen bioinformatic pipelines for metagenomic virus diagnostics using datasets from clinical samples2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Jutte J.C. de Vries, Julianne Rose Brown, Nicole Fischer, Igor A. Sidorov, Sofia Morfopoulou, Jiabin Huang, +24 more
2citations -
Genetic diversity of the pathogenic banana Fusarium wilt in northern Viet Nam2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Banana Cultivation and Research Open access
Loan Le Thi, Arne Mertens, Dang Toan Vu, Dang Tuong Vu, Pham Le Anh Minh, Huy Nguyen Duc, +9 more
1citations -
Quantitative Systems Pharmacology Modeling Framework of Autophagy in Tuberculosis: Application to Adjunctive Metformin Host-Directed Therapy2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tuberculosis Research and Epidemiology Open access
Krina Mehta, Tingjie Guo, Robert S. Wallis, Piet H. van der Graaf, J. G. Coen van Hasselt
0citations