Papers matching “structural variant calling” 49
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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 -
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 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 -
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 -
Additional file 1 of Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet2023 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Peng Jia, Lianhua Dong, Xiaofei Yang, Bo Wang, Stephen J. Bush, Tingjie Wang, +17 more
0citations -
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 -
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 -
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 -
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 -
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