Papers matching “complex structural variants” 26
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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 -
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 -
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 -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Myrthe R. M. Kamphof, Bodo Laube, Gijs W.E. Santen, Hanna Swaab, +1 more
0citations -
The Molecular Human – A Roadmap of Molecular Interactions Linking Multiomics Networks with Disease Endpoints2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Anna Halama, Shaza B. Zaghlool, Gaurav Thareja, Sara Abdul Kader, Wadha Al Muftha, Marjonneke J. Mook-Kanamori, +17 more
5citations -
A Chemoenzymatic Strategy for Site-Specific Glyco-Tagging of Native Proteins for the Development of Biologicals2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Ana Gimeno, Anna M. Ehlers, Sandra Delgado, Jan-Willem H. Langenbach, Leendert J. van den Bos, John A. W. Kruijtzer, +2 more
0citations -
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan, +41 more
14citations -
AlphaFold 3 captures oligomeric states and interaction dynamics of MLO ion channels2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Jan Hübbers, Chandan Kumar Das, Alexander Speck, Myriam Elisabeth Fuerst, Hanna Simon, Marie Laufens, +4 more
1citations -
Glycoproteomics of a single protein: revealing hundreds of thousands of Myozyme® glycoforms by hybrid HPLC-MS approaches2022 ChemRxiv preprint Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Fiammetta Di Marco, Constantin Blöchl, Wolfgang Esser‐Skala, Veronika Schäpertöns, Tao Zhang, Manfred Wuhrer, +3 more
1citations -
A relational architecture of the human genome2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Ingo Kurth, Jeremias Krause, Martin Danner, Florian Kraft, Tanhim Islam, Matthias Begemann, +3 more
0citations -
Distinct roles of IDR and CCD domains control PABPN1 aggregation and enable therapeutic rescue2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Milad Shademan, Iolanda Vendrell, Alberto Malerba, s Khoshbash, Sarah Flannery, March, +4 more
0citations -
Development of DuoMYC: a synthetic cell penetrant miniprotein that efficiently inhibits the oncogenic transcription factor MYC2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Chemical Synthesis and Analysis Open access
Brecht D. Ellenbroek, Jan Pascal Kahler, Damiano Arella, Cherina Lin, Willem Jespers, Sebastian J. Pomplun
1citations -
Mouse and cellular models of KPTN -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, +35 more
1citations -
An Enhanced Sampling Approach to the Induced Fit Docking Problem in Protein-Ligand Binding: the case of mono-ADP-ribosylation hydrolases inhibitors2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Qianqian Zhao, Riccardo Capelli, Paolo Carloni, Bernhard Lüscher, Jinyu Li, Giulia Rossetti
1citations -
Multi-level monitoring of EME1-MUS81 in CPT induced nucleolar rDNA repair2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Bakshi Karishma, Easa Nagamalleswari, Jan Breucker, Nathalie Eisenhardt, Richa Tiwari, Román González‐Prieto, +8 more
0citations -
FibrilPaints for visualisation and ubiquitination of Huntingtin amyloid fibrils2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Genetic Neurodegenerative Diseases Open access
Françoise A. Dekker, Emile van Weert, Tommaso Garfagnini, Júlia Aragonès Pedrola, Alfred C.O. Vertegaal, Assaf Friedler, +1 more
0citations -
Cell-type, single-cell, and spatial signatures of brain-region specific splicing in postnatal development2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Anoushka Joglekar, Andrey D. Prjibelski, Ahmed Essam Mahfouz, Paul G. Collier, Susan Lin, Anna Katharina Schlusche, +22 more
5citations