{"title":"Improving reporting standards for genetic variants","authors":"","doi":"10.1038/s41588-024-02002-3","DOIUrl":null,"url":null,"abstract":"The standardized naming of gene variants in both databases and publications is crucial to ensure their discoverability and clinical application. Efforts are underway in conjunction with the Human Genome Organization (HUGO) to develop a field standard for variant reporting through the use of validation software prior to publication.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2283-2283"},"PeriodicalIF":31.7000,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41588-024-02002-3.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature genetics","FirstCategoryId":"99","ListUrlMain":"https://www.nature.com/articles/s41588-024-02002-3","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
The standardized naming of gene variants in both databases and publications is crucial to ensure their discoverability and clinical application. Efforts are underway in conjunction with the Human Genome Organization (HUGO) to develop a field standard for variant reporting through the use of validation software prior to publication.
期刊介绍：
Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation.
Integrative genetic topics comprise, but are not limited to:
-Genes in the pathology of human disease
-Molecular analysis of simple and complex genetic traits
-Cancer genetics
-Agricultural genomics
-Developmental genetics
-Regulatory variation in gene expression
-Strategies and technologies for extracting function from genomic data
-Pharmacological genomics
-Genome evolution
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