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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 -
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 -
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 -
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 -
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 -
Novel histones and histone variant families in prokaryotes2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Samuel Schwab, Yimin Hu, Bert van Erp, Marc K M Cajili, Marcus D. Hartmann, Birte Hernandez Alvarez, +3 more
5citations -
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 -
Age-dependent genetic variants associated with longitudinal changes in brain structure across the lifespan2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rachel M. Brouwer, Marieke Klein, Katrina L. Grasby, Hugo Gerard Schnack, Neda Jahanshad, Jalmar Teeuw, +94 more
11citations -
Structural and mechanistic insight into spectral tuning in flavin-binding fluorescent proteins2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Advanced Fluorescence Microscopy Techniques Open access
Katrin Röllen, Joachim Granzin, Alina Remeeva, Mehdi D. Davari, Thomas Gensch, Vera V. Nazarenko, +10 more
2citations -
Defining the minimal structural requirements of DivIVA in filamentous Actinomycetota2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Bacterial Genetics and Biotechnology Open access
Maarten Lubbers, Belmin Bajramović, Véronique Ongenae, Joost J. Willemse, Dieuwertje A. de Bruin, Niels Mulder, +6 more
0citations -
Structural and functional analysis of the Mycobacterium tuberculosis MmpS5L5 efflux pump presages a pathway to increased bedaquiline resistance2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tuberculosis Research and Epidemiology Open access
Adam J. Fountain, Jan Böhning, Stephen H. McLaughlin, Tomos E. Morgan, Paul H. Edelstein, Mark A. Troll, +4 more
4citations -
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 -
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Francesco Oliva, Francesco Musiani, Alejandro Giorgetti, Silvia De Rubeis, Oksana Sorokina, J. Douglas Armstrong, +2 more
0citations -
Trans-dimensional Bayesian model averaging for $^{13}$C-based metabolic flux analysis: Evidence-based flux inference under structural model uncertainty2026 arXiv (Cornell University) preprint Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Johann F. Jadebeck, Anton Stratmann, Martin Beyß, Katharina Nöh
0citations -
PAV-spotter: using signal cross-correlations to identify Presence/Absence Variation in target capture data2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Manon Chantal de Visser, Chris van der Ploeg, Milena Cvijanović, Tijana Z. Vučić, Anagnostis Theodoropoulos, Ben Wielstra
4citations -
KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity2026 Genes & Development preprint Biochemistry, Genetics and Molecular Biology Kruppel-like factors research Open access
Danielle C. Hamm, Aidan B. O'Donnell, Sean R. Bennett, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Silvère M. van der Maarel, +1 more
2citations -
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Robin van Schendel, Anastasia Emmanouilidou, Rebecka Östlund, Ignas Bunikis, Marcel Tijsterman, +2 more
1citations -
Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sebastian Meyer, Ben Kinnersley, Katarzyna Kedzierska, Ignacio Soriano, Eszter Lakatos, Claudia Arnedo-Pac, +26 more
0citations -
Complete Telomere-to-Telomere Assembly of the Y Chromosome in the Chinese Quartet2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Bo Wang, Zexin Zhang, Shijie Wan, Yu Zhang, Xia Wang, Lianhua Dong, +2 more
0citations