{"title":"早期数据显示基因组新生儿筛查大有可为","authors":"","doi":"10.1038/d41591-024-00082-6","DOIUrl":null,"url":null,"abstract":"Interim results from a large, ongoing study shows that genomic newborn screening identifies treatable conditions that would be missed by standard tests.","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"25 1","pages":""},"PeriodicalIF":58.7000,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Early readout shows promise of genomic newborn screening\",\"authors\":\"\",\"doi\":\"10.1038/d41591-024-00082-6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Interim results from a large, ongoing study shows that genomic newborn screening identifies treatable conditions that would be missed by standard tests.\",\"PeriodicalId\":19037,\"journal\":{\"name\":\"Nature Medicine\",\"volume\":\"25 1\",\"pages\":\"\"},\"PeriodicalIF\":58.7000,\"publicationDate\":\"2024-11-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/d41591-024-00082-6\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/d41591-024-00082-6","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Early readout shows promise of genomic newborn screening
Interim results from a large, ongoing study shows that genomic newborn screening identifies treatable conditions that would be missed by standard tests.
期刊介绍：
Nature Medicine is a monthly journal publishing original peer-reviewed research in all areas of medicine. The publication focuses on originality, timeliness, interdisciplinary interest, and the impact on improving human health. In addition to research articles, Nature Medicine also publishes commissioned content such as News, Reviews, and Perspectives. This content aims to provide context for the latest advances in translational and clinical research, reaching a wide audience of M.D. and Ph.D. readers. All editorial decisions for the journal are made by a team of full-time professional editors.
Nature Medicine consider all types of clinical research, including:
-Case-reports and small case series
-Clinical trials, whether phase 1, 2, 3 or 4
-Observational studies
-Meta-analyses
-Biomarker studies
-Public and global health studies
Nature Medicine is also committed to facilitating communication between translational and clinical researchers. As such, we consider “hybrid” studies with preclinical and translational findings reported alongside data from clinical studies.
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