Papers matching “structural variant calling” 12
Not finding it? Sign in to also search OpenAlex live.
-
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 -
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 -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
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 -
The Genomic Landscape of Post-Black Death Epidemics in Northern Europe and the Caucasus2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Yersinia bacterium, plague, ectoparasites research Open access
Cameron Robert Ferguson, Åshild J. Vågene, Marcel Keller, Caroline Arcini, Eveline Altena, Gorka Lasso, +27 more
1citations -
Empirical Material Sampling and Linearisation -- A Simple and Efficient Strain-Space Model Order Reduction Approach for Computational Homogenisation in Large-Deformation Hyperelasticity0citations
12 results