Papers matching “structural variant calling” 54
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Defining Cases and Variants for Object-Centric Event Data2022 International Conference on Process Mining (ICPM) conference-paper Business, Management and Accounting Business Process Modeling and Analysis cited by 3 patents
Jan Niklas Adams, Daniel Schuster, Seth Schmitz, Günther Schuh, Wil M. P. van der Aalst
45citations -
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria2022 Scientific Reports article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sien Lequeue, Jessie Neuckermans, Ine Nulmans, Ulrich Schwaneberg, Tamara Vanhaecke, Joery De Kock
5citations -
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
Solving multi-structured problems by introducing linkage kernels into GOMEA2022 Genetic and Evolutionary Computation Conference (GECCO) conference-paper Computer Science Metaheuristic Optimization Algorithms Research Open access
Arthur Guijt, Dirk Thierens, Tanja Alderliesten, Peter A. N. Bosman
7citations -
Heterologous expression and characterization of synthetic polyester-degrading cutinases from Fusarium spp. in Aspergillus niger2025 Microbiology Spectrum book-review Biochemistry, Genetics and Molecular Biology Enzyme Catalysis and Immobilization Open access
Jo-Anne Verschoor, Mark Arentshorst, A.J.G. Regensburg-Tuïnk, Sjoerd J. Seekles, Cees A. M. J. J. van den Hondel, Johannes H. DE WINDE, +1 more
2citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
Porous Anisometric PNIPAM Microgels: Tailored Porous Structure and Thermal Response2024 Macromolecular Rapid Communications article Biochemistry, Genetics and Molecular Biology Hydrogels: synthesis, properties, applications Open access
Lea Steinbeck, Hanna J. M. Wolff, Maximilian Middeldorf, John Linkhorst, Matthias Weßling
10citations -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
FhuA: From Iron-Transporting Transmembrane Protein to Versatile Scaffolds through Protein Engineering2023 Accounts of Chemical Research article Biochemistry, Genetics and Molecular Biology Enzyme Catalysis and Immobilization
Daniel F. Sauer, Ulrich Markel, Johannes Schiffels, Jun Okuda, Ulrich Schwaneberg
3citations -
The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care—A Systematic Review2022 Cancers review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Kyra Bokkers, Michiel Vlaming, Ellen G. Engelhardt, Ronald Peter Zweemer, Inge M. van Oort, Lambertus A.L.M. Kiemeney, +2 more
82citations -
Super-Resolution Imaging of the A- and B-Type Lamin Networks: A Comparative Study of Different Fluorescence Labeling Procedures2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Nuclear Structure and Function Open access
Merel Stiekema, Frans C. S. Ramaekers, Dimitrios Kapsokalyvas, Marc A. M. J. van Zandvoort, Rogier J. A. Veltrop, Jos L. V. Broers
21citations -
The Genomic Landscape of Post-Black Death Epidemics in Northern Europe and the Caucasus2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Yersinia bacterium, plague, ectoparasites research Open access
Cameron Robert Ferguson, Åshild J. Vågene, Marcel Keller, Caroline Arcini, Eveline Altena, Gorka Lasso, +27 more
1citations