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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 -
Interlaboratory comparison using inactivated SARS-CoV-2 variants as a feasible tool for quality control in COVID-19 wastewater monitoring2023 The Science of The Total Environment article Medicine SARS-CoV-2 detection and testing Open access
Alexander Wilhelm, Jens Schoth, Christina Meinert‐Berning, Daniel Bastian, Helmut Blum, Goffe Elsinga, +17 more
11citations -
Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together2021 Clinical Chemistry and Laboratory Medicine (CCLM) article Medicine Hemoglobinopathies and Related Disorders
Iacopo Iacomelli, Giuseppina Barberio, Piero Pucci, Vittoria Monaco, Massimo Maffei, Massimo Mogni, +5 more
3citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants2021 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +44 more
9citations -
Mako: a graph-based pattern growth approach to detect complex structural variants2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +8 more
1citations -
Long‐Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism
Sumudu Rangika Samarasinghe, Andrea Gaedigk, Jesse Joachim Swen, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
3citations -
High throughput AS LNA qPCR method for the detection of a specific mutation in poliovirus vaccine strains2024 Vaccine article Biochemistry, Genetics and Molecular Biology Molecular Biology Techniques and Applications Open access
Lizet Opmeer, Isabella Gazzoli, Mónika Z. Ballmann, Marieke Willemsen, Gerben P. Voshol, Magda Grudniewska-Lawton, +5 more
1citations -
SVision: a deep learning approach to resolve complex structural variants2022 Nature Methods article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Jiadong Lin, Songbo Wang, Peter A. Audano, Deyu Meng, Jacob I. Flores, Walter A. Kosters, +5 more
119citations -
SVision: A deep learning approach to resolve complex structural variants2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Kai Ye, Jiadong Lin, Songbo Wang, Peter A. Audano, Jacob I. Flores, Walter A. Kosters, +4 more
2citations -
Design and performance of a long-read sequencing panel for pharmacogenomics2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Maaike van der Lee, Loes Busscher, Roberta Menafra, Qinglian Zhai, Redmar R. van den Berg, Sarah B. Kingan, +6 more
2citations -
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency2020 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Laixi Xue, Joyce B. J. van Meurs, Barbara H. Barendregt, +14 more
37citations -
Assessing clinical decision support system tools in precision oncology: piloting ring testing2026 ESMO Real World Data and Digital Oncology article Medicine Artificial Intelligence in Healthcare and Education Open access
Vigdis Nygaard, S. Zhao, D. Tamborero, Richard Rosenquist, Albrecht Stenzinger, Paul Roepman, +16 more
0citations -
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