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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).

作者信息

Bean Lora J H, Scheuner Maren T, Murray Michael F, Biesecker Leslie G, Green Robert C, Monaghan Kristin G, Palomaki Glenn E, Sharp Richard R, Trotter Tracy L, Watson Michael S, Powell Cynthia M

机构信息

Department of Human Genetics, Emory University, Atlanta, GA, USA.

Division of Medical Genetics, Department of Pediatrics, and Division of Hematology-Oncology, Department of Medicine, University of California San Francisco School of Medicine, San Francisco, CA, USA.

出版信息

Genet Med. 2021 Jun;23(6):979-988. doi: 10.1038/s41436-020-01083-9. Epub 2021 Mar 31.

DOI:10.1038/s41436-020-01083-9
PMID:33790423
Abstract
摘要

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Genet Med. 2020 Aug;22(8):1285-1287. doi: 10.1038/s41436-020-0821-6. Epub 2020 May 14.
2
Design and Reporting Considerations for Genetic Screening Tests.遗传筛查测试的设计和报告考虑因素。
J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22.
3
Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.
基于DNA的成人发病疾病群体筛查的阴性结果：受检者的体验
J Community Genet. 2024 Dec;15(6):653-664. doi: 10.1007/s12687-024-00736-5. Epub 2024 Oct 7.
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Novel Loss-of-Function Variants in Infertile Males Upgrade the Gene-Disease Clinical Validity Classification for and Male Infertility to Strong.不育男性中新型功能丧失变异体使基因-疾病临床有效性分类对和男性不育症的评估提升至强。
Genes (Basel). 2024 Aug 19;15(8):1092. doi: 10.3390/genes15081092.
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Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.初级保健提供者参与主动选择性基因检测项目的经历。
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Genet Med. 2020 Mar;22(3):453-461. doi: 10.1038/s41436-019-0666-z. Epub 2019 Nov 16.
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