January 24, 2017 article Open access A variant by any name: quantifying annotation discordance across tools and clinical databases Genome Medicine DOI: 10.1186/s13073-016-0396-7 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 5 stored of 72 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 A graph-based approach to variant description extraction from sequences 2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access 0 citations A Boolean algebra for genetic variants 2023 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 1 citations Mutalyzer 2: next generation HGVS nomenclature checker 2021 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 132 citations Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals 2020 Human Mutation article Arts and Humanities Academic Writing and Publishing Open access 14 citations Mutalyzer 2: Next Generation HGVS Nomenclature Checker 2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 9 citations 5 results References 0