December 01, 2018 article Open access Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing Genome Medicine DOI: 10.1186/s13073-018-0606-6 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 4 stored of 203 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access De novo and somatic structural variant discovery with SVision-pro 2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent 30 citations Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants 2021 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 9 citations Mako: a graph-based pattern growth approach to detect complex structural variants 2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access 1 citations Long-read sequencing to understand genome biology and cell function 2020 The International Journal of Biochemistry & Cell Biology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies 35 citations 4 results References 0