November 15, 2019 article Open access SPDI: data model for variants and applications at NCBI Bioinformatics DOI: 10.1093/bioinformatics/btz856 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 6 stored of 59 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 HGVS Nomenclature 2024: improvements to community engagement, usability, and computability 2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 65 citations A Boolean algebra for genetic variants 2023 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 1 citations The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine 2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access 14 citations Mutalyzer 2: next generation HGVS nomenclature checker 2021 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 132 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 6 results References 0