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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 -
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 -
De novo whole genome assembly of the globally invasive green shore crab Carcinus maenas (Linnaeus, 1758) via long-read Oxford Nanopore MinION sequencing2025 bioRxiv (Cold Spring Harbor Laboratory) preprint 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 -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, A.J.G. Regensburg-Tuïnk, Christiaan V. Henkel, Herman P. Spaink
2citations -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, Tonny J. G. Regensburg‐Tuïnk, Christiaan V. Henkel, Hans J. Jansen, Herman P. Spaink
1citations -
Microbial diversity characterization of seawater in a pilot study using Oxford Nanopore Technologies long-read sequencing2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Michael K. Liem, A.J.G. Regensburg-Tuïnk, C.V. Henkel, Herman P. Spaink
1citations -
Development of an amplicon nanopore sequencing strategy for detection of mutations conferring intermediate resistance to vancomycin in Staphylococcus aureus strains2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Antimicrobial Resistance in Staphylococcus Open access
Abraham G Moller, Robert A. Petit, Michelle H. Davis, Timothy D. Read
0citations -
Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiao Chen, Richard J.L.F. Lemmers, Zev N. Kronenberg, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, +7 more
0citations -
Haplotype Threading: Accurate Polyploid Phasing from Long Reads2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Sven D. Schrinner, Rebecca Serra Mari, Jana Ebler, Mikko Rautiainen, Lancelot Seillier, Julia J. Reimer, +3 more
18citations -
CNVizard – a lightweight streamlit application for an interactive analysis of copy number variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, +3 more
1citations -
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Peng Jia, Lianhua Dong, Xiaofei Yang, Bo Wang, Tingjie Wang, Jiadong Lin, +15 more
6citations -
Towards complete and error-free genome assemblies of all vertebrate species2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Arang Rhie, Shane McCarthy, Olivier D. Fedrigo, Joana Damas, Giulio Formenti, Sergey Koren, +92 more
197citations -
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Anastasia Emmanouilidou, Rebecka Östlund, Robin van Schendel, Selma Bozorgpana, Lars Feuk, +3 more
0citations -
The genome of the "Sea Vomit" Didemnum vexillum2020 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ernesto Parra-Rincón, Cristian A. Velandia-Huerto, Jörg Fallmann, Adriaan Gittenberger, Federico D. Brown, Peter Florian Stadler, +1 more
1citations -
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 -
Towards epigenetics in sugar beet – the ONT based reference 5mC methylome of Beta vulgaris ssp. vulgaris2025 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Muriel Wulfhorst, Katharina Sielemann, Nicola Schmidt, Prisca Viehöver, Aaron Kolbecher, Frank M. Johannes, +4 more
0citations -
The fully resolved genome of Bacillus thuringiensis HER1410 reveals a cry -containing chromosome, two megaplasmids & an integrative plasmidial prophage2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Entomopathogenic Microorganisms in Pest Control Open access
Ana Lechuga, Cédric Lood, Margarita Salas, V. Vera van Noort, Rob Lavigne, Modesto Redrejo‐Rodríguez
0citations