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A comparison of five Illumina, Ion Torrent, and nanopore sequencing technology-based approaches for whole genome sequencing of SARS-CoV-22023 European Journal of Clinical Microbiology & Infectious Diseases article Medicine SARS-CoV-2 detection and testing Open access
Ellen C. Carbo, Kees Mourik, Stefan A. Boers, Bas B. Oude Munnink, David F. Nieuwenhuijse, Marcel Jonges, +10 more
33citations -
Long-read sequencing reveals that the mitochondrial genome of an individual Ixodiphagus hookeri is a mixture of structural variants with an invariable core region and heterogeneous repeat regions2026 Current Research in Parasitology and Vector-Borne Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ron P. Dirks, Hans J. Jansen, Wouter J. Veneman, Jane Segobola, Valérie O. Baede, Veronika Blažeková, +3 more
0citations -
De novo whole genome assembly of the globally invasive green shore crab Carcinus maenas (Linnaeus, 1758) via long-read Oxford Nanopore MinION sequencing2025 Journal of Heredity article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Jolanda K. Brons, Thomas Hackl, Riccardo Iacovelli, Kristina Haslinger, Sébastian Lequime, Sancia E. T. van der Meij
0citations -
Hospital transmission of borderline oxacillin-resistant Staphylococcus aureus evaluated by whole-genome sequencing2021 Journal of Medical Microbiology article Medicine Antimicrobial Resistance in Staphylococcus Open access
Maria M. Konstantinovski, Karin Ellen Veldkamp, Adriana P.M. Lavrijsen, Thijs Bosch, Margriet E. M. Kraakman, Sam Nooij, +2 more
17citations -
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo, Sarah Buts, Natalie Jane Chandler, +32 more
81citations -
Automating the Illumina DNA library preparation kit for whole genome sequencing applications on the flowbot ONE liquid handler robot2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Erin Meijers, Fabienne B. Verhees, Dennis Heemskerk, Els Wessels, Eric C. J. Claas, Stefan A. Boers
8citations -
Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Marie Coutelier, +24 more
26citations -
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies2022 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Jerry E. Vockley, Annemieke M Aartsma-Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, +2 more
14citations -
Study protocol of the GLOW study: maximising treatment options for recurrent glioblastoma patients by whole genome sequencing-based diagnostics—a prospective multicenter cohort study
Mark P. van Opijnen, Marike L. D. Broekman, Filip De Vos, Edwin P. J. G. Cuppen, Jacobus J. M. van der Hoeven, Myra Ellen Van Linde, +12 more
7citations -
Systematic assessment of COVID-19 host genetics using whole genome sequencing data2024 PLoS Pathogens article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, +67 more
1citations -
Genome sequencing of the neotype strain CBS 554.65 reveals the MAT1–2 locus of Aspergillus niger2021 BMC Genomics article Biochemistry, Genetics and Molecular Biology Fungal and yeast genetics research Open access
Valeria Ellena, Sjoerd J. Seekles, Gabriel Alexander Vignolle, Arthur F. J. Ram, Matthias G. Steiger
7citations -
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients2026 European Journal of Human Genetics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Madeline Gorny, Katja Susanne Just, Tim Krüger, Matthias Begemann, Florian Kraft, Thomas Eggermann, +2 more
3citations -
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K. Amin, György Fekete, Anna Lengyel, +7 more
3citations -
Genomic survey sequencing and complete mitochondrial genome of the elkhorn coral crab Domecia acanthophora (Desbonne in Desbonne & Schramm, 1867) (Decapoda: Brachyura: Domeciidae)2023 Journal of Crustacean Biology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Henrique Bravo, Juan Antonio Baeza, Sancia E. T. van der Meij
4citations -
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ana Gonçalves, Ana María Fortuna, Yavuz Ariyürek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, +4 more
12citations -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
High-depth whole genome sequencing of premalignant breast lesions reveals rearrangement hotspots and personalized management opportunities2026 Nature Communications article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Lucia Chmelova, Helen R. Davies, Andrea Degasperi, Giuseppe Rinaldi, Leon J. Wils, Daniella Black, +44 more
0citations -
Genome‐wide methylation profiling of maternal cell‐free DNA using methylated DNA sequencing ( MeD ‐seq) indicates a placental and immune‐cell signature2024 European Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Marjolein M. van Vliet, Ruben Boers, Joachim Boers, Olivier J. M. Schäffers, Lotte E. van der Meeren, Régine P.M. Steegers‐Theunissen, +2 more
8citations