关键词: FAIR allele database fission yeast gene variant genotype knowledge base model organism nomenclature standardization

Mesh : Humans Schizosaccharomyces / genetics Alleles Comprehension Databases, Genetic Phenotype

来  源:   DOI:10.1093/genetics/iyad143   PDF(Pubmed)

Abstract:
Standardized nomenclature for genes, gene products, and isoforms is crucial to prevent ambiguity and enable clear communication of scientific data, facilitating efficient biocuration and data sharing. Standardized genotype nomenclature, which describes alleles present in a specific strain that differ from those in the wild-type reference strain, is equally essential to maximize research impact and ensure that results linking genotypes to phenotypes are Findable, Accessible, Interoperable, and Reusable (FAIR). In this publication, we extend the fission yeast clade gene nomenclature guidelines to support the curation efforts at PomBase (www.pombase.org), the Schizosaccharomyces pombe Model Organism Database. This update introduces nomenclature guidelines for noncoding RNA genes, following those set forth by the Human Genome Organisation Gene Nomenclature Committee. Additionally, we provide a significant update to the allele and genotype nomenclature guidelines originally published in 1987, to standardize the diverse range of genetic modifications enabled by the fission yeast genetic toolbox. These updated guidelines reflect a community consensus between numerous fission yeast researchers. Adoption of these rules will improve consistency in gene and genotype nomenclature, and facilitate machine-readability and automated entity recognition of fission yeast genes and alleles in publications or datasets. In conclusion, our updated guidelines provide a valuable resource for the fission yeast research community, promoting consistency, clarity, and FAIRness in genetic data sharing and interpretation.
摘要:
基因的标准化命名法,基因产物,同工型对于防止歧义和实现科学数据的清晰交流至关重要,促进有效的生物存储和数据共享。标准化基因型命名法,它描述了特定菌株中存在的与野生型参考菌株不同的等位基因,对于最大化研究影响并确保将基因型与表型联系起来的结果是可察觉的,可访问,互操作,可重用(FAIR)。在本出版物中,我们扩展了裂变酵母进化枝基因命名指南,以支持PomBase的策展工作(www.pombase.org),裂殖酵母模型生物数据库。此更新介绍了非编码RNA基因的命名指南,遵循人类基因组组织基因命名委员会的规定。此外,我们对最初于1987年发布的等位基因和基因型命名指南进行了重大更新,以标准化裂变酵母遗传工具箱所实现的各种遗传修饰范围。这些更新的指南反映了许多裂变酵母研究人员之间的社区共识。采用这些规则将提高基因和基因型命名法的一致性,并促进机器可读性和自动化实体识别裂变酵母基因和等位基因在出版物或数据集。总之,我们更新的指南为裂变酵母研究界提供了宝贵的资源,促进一致性,清晰度,遗传数据共享和解释中的公平。
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