Papers matching “structural variant calling” 30
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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 -
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 -
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 -
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 -
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 -
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 -
Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle2021 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access cited by 1 patent
Maaike van der Lee, William J. Rowell, Roberta Menafra, Henk‐Jan Guchelaar, Jesse Joachim Swen, Seyed Yahya Anvar
38citations -
Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Marie Coutelier, +24 more
26citations -
Assessing clinical decision support system tools in precision oncology: piloting ring testing2026 ESMO Real World Data and Digital Oncology article Medicine Artificial Intelligence in Healthcare and Education Open access
Vigdis Nygaard, S. Zhao, D. Tamborero, Richard Rosenquist, Albrecht Stenzinger, Paul Roepman, +15 more
0citations -
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria2022 Scientific Reports article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sien Lequeue, Jessie Neuckermans, Ine Nulmans, Ulrich Schwaneberg, Tamara Vanhaecke, Joery De Kock
5citations -
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
Porous Anisometric PNIPAM Microgels: Tailored Porous Structure and Thermal Response2024 Macromolecular Rapid Communications article Biochemistry, Genetics and Molecular Biology Hydrogels: synthesis, properties, applications Open access
Lea Steinbeck, Hanna J. M. Wolff, Maximilian Middeldorf, John Linkhorst, Matthias Weßling
10citations -
FhuA: From Iron-Transporting Transmembrane Protein to Versatile Scaffolds through Protein Engineering2023 Accounts of Chemical Research article Biochemistry, Genetics and Molecular Biology Enzyme Catalysis and Immobilization
Daniel F. Sauer, Ulrich Markel, Johannes Schiffels, Jun Okuda, Ulrich Schwaneberg
3citations