Source publications
Looking for studies attached to genes or diseases? Browse research literature and search PubMed.
These papers describe the databases and methods behind BioWeaver. Choose a tool to find its resource publications. For the exact data used in an analysis, retain its source manifest and check data freshness: a paper's publication year is not a dataset version.
These are upstream resource papers, not publications about BioWeaver. Individual annotations may have additional experimental references; follow those references in the tool and its exports when interpreting a result. See sources and scope and reuse notes.
Loom
Gene, disease, orthology and phenotype records, functional annotations, constraint and mouse model evidence.
Evidence Map
Disease coverage from Alliance annotations and Disease Ontology relationships.
Unresolved
Human ClinVar gene summaries and gnomAD constraint.
Unseen
Reviewed human UniProt records, including their GO annotation fields, and gnomAD constraint.
Evidence Audit
Human evidence review, mouse ortholog evidence and optional NCBI identifier-history review.
Orthology Workbench
Alliance gene identifiers and integrated orthology, with optional NCBI identifier-history review.
Evidence Trail
Alliance disease records and donor genes, orthology context and optional NCBI identifier-history review.
Cross-species Comparator
Alliance evidence and orthology, source GO annotation files, human gene information, constraint and FlyBase complementation records. GO records retain the contributing database and original references.
Evidence Changes
The current baseline records an Evidence Trail snapshot. No biological changes are published yet.
Resource bibliography
Disease Ontology
Schriml, L.M. et al. (2022). The Human Disease Ontology 2022 update. Nucleic Acids Research, 50(D1), D1255-D1261. Read publication
Gene Ontology
Gene Ontology Consortium (2026). The Gene Ontology knowledgebase in 2026. Nucleic Acids Research, 54(D1), D1779-D1792. Read publication
ClinVar
Landrum, M.J. et al. (2018). ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Research, 46(D1), D1062-D1067. Read publication
gnomAD
Karczewski, K.J. et al. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 581, 434-443. Read publication
UniProt
UniProt Consortium (2025). UniProt: the Universal Protein Knowledgebase in 2025. Nucleic Acids Research, 53(D1), D609-D617. Read publication
Alliance of Genome Resources
Alliance of Genome Resources Consortium (2024). Updates to the Alliance of Genome Resources central infrastructure. Genetics, 227(1), iyae049. Read publication
DIOPT
Hu, Y. et al. (2011). An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics, 12, 357. Read publication
International Mouse Phenotyping Consortium
Wilson, R. et al. (2026). International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease. Nucleic Acids Research, 54(D1), D1133-D1142. Read publication
Mouse Genome Informatics
Baldarelli, R.M. et al. (2024). Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse. Genetics, 227(1), iyae031. Read publication
NCBI Gene
Brown, G.R. et al. (2015). Gene: a gene-centered information resource at NCBI. Nucleic Acids Research, 43(D1), D36-D42. Read publication
FlyBase
Öztürk-Çolak, A. et al. (2024). FlyBase: updates to the Drosophila genes and genomes database. Genetics, 227(1), iyad211. Read publication