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Variant Calling in the Dark Genome: Benchmarking SNV Calls in the Flanks of Structural Variants2026 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ningxin Dang, Peng Jia, Jiadong Lin, Yongyong Kang, Z K Li, Kai Ye, +1 more
0citations -
De novo and somatic structural variant discovery with SVision-pro2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Songbo Wang, Jiadong Lin, Peng Jia, Tun Xu, Xiujuan Li, Y Liu, +4 more
30citations -
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 -
Comparison and benchmark of structural variants detected from long read and long-read assembly2023 Briefings in Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Peng Jia, Songbo Wang, Walter A. Kosters, Kai Ye
15citations -
Comparison and benchmark of structural variants detected from long read and long read assembly2023 Zenodo (CERN European Organization for Nuclear Research) article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Peng Jia, Songbo Wang, Walter A. Kosters, Kai Ye
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
5citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Joseph S. Baxter, Nichola Johnson, Katarzyna Tomczyk, Andrea Gillespie, Sarah L. Maguire, Rachel Brough, +93 more
9citations -
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 -
Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile2023 Breast Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marcel Smid, Marjanka K. Schmidt, Wendy J. C. Prager‐van der Smissen, Kirsten Ruigrok-Ritstier, Maartje A. C. Schreurs, Sten Cornelissen, +8 more
10citations -
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations2022 Nature Communications article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 1 patent
Ida Höijer, Anastasia Emmanouilidou, Rebecka Östlund, Robin van Schendel, Selma Bozorgpana, Marcel Tijsterman, +4 more
196citations -
Long-read sequencing reveals that the mitochondrial genome of an individual Ixodiphagus hookeri is a mixture of structural variants with an invariable core region and heterogeneous repeat regions2026 Current Research in Parasitology and Vector-Borne Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ron P. Dirks, Hans J. Jansen, Wouter J. Veneman, Jane Segobola, Valérie O. Baede, Veronika Blažeková, +3 more
0citations -
Structural characterization reveals heterogeneity in the O-antigen polysaccharide of Escherichia coli O101 O-serogroup variants2026 Carbohydrate Research article Biochemistry, Genetics and Molecular Biology Escherichia coli research studies Open access
Alan B. Moran, Chakkumkal Anish, Neil Ravenscroft, Eveline Weerdenburg, Peter Burghout, Jan Grijpstra, +6 more
0citations -
Molecular epidemiology and structural diversity of O101/O162 O-antigen variants among Escherichia coli bacteremia isolates2026 Scientific Reports article Biochemistry, Genetics and Molecular Biology Escherichia coli research studies Open access
Eveline Weerdenburg, Mark de Been, Aldert Zomer, Wannisa Ritmahan, Joyce Lübbers, Alan B. Moran, +6 more
0citations -
Introduction to Galaxy Platform for NGS Variant Calling Pipeline2020 Advancements in Life Sciences (University of the Punjab) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Rashid Saif, Aniqa Ejaz, Tania Mehmood, Suliman Mohammad Alghanem, Talha Saleem Ahmad
5citations -
Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
0citations -
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family2021 JID Innovations article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Youssef A. Elhaji, Tessa M. A. van Henten, Claudia A. L. Ruivenkamp, Mathew Nightingale, Gijs W.E. Santen, Lydia E. Vos, +1 more
3citations -
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex2025 Journal of Chemical Information and Modeling article Biochemistry, Genetics and Molecular Biology Protein Structure and Dynamics Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, +1 more
2citations