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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).

作者信息

Murray Michael F, Giovanni Monica A, Doyle Debra L, Harrison Steven M, Lyon Elaine, Manickam Kandamurugu, Monaghan Kristin G, Rasmussen Sonja A, Scheuner Maren T, Palomaki Glenn E, Watson Michael S

机构信息

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

Genomics Consultant, Brookline, MA, USA.

出版信息

Genet Med. 2021 Jun;23(6):989-995. doi: 10.1038/s41436-020-01082-w. Epub 2021 Mar 16.

DOI:10.1038/s41436-020-01082-w
PMID:33727704
Abstract
摘要

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本文引用的文献

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Conclusion and future directions: CDC Health Disparities and Inequalities Report - United States, 2013.结论与未来方向：《2013年美国疾病控制与预防中心健康差异与不平等报告》
MMWR Suppl. 2013 Nov 22;62(3):184-6.
2
[Principles and practice of mass screening for disease].[疾病群体筛查的原则与实践]
Bol Oficina Sanit Panam. 1968 Oct;65(4):281-393.
X和Y基因剂量效应是人类性别二态性的主要影响因素：以身高为例。
Proc Natl Acad Sci U S A. 2025 Jun 3;122(22):e2503039122. doi: 10.1073/pnas.2503039122. Epub 2025 May 19.
4
Trends in Cancer Incidence and Mortality Rates in Early-Onset and Older-Onset Age Groups in the United States, 2010-2019.2010 - 2019年美国早发和晚发年龄组的癌症发病率和死亡率趋势
Cancer Discov. 2025 Jul 3;15(7):1363-1376. doi: 10.1158/2159-8290.CD-24-1678.
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Misattributed paternity discovery: A critique of medical organizations' recommendations.错误认定亲子关系的发现：对医学组织建议的批判
Am J Hum Genet. 2025 Mar 6;112(3):492-507. doi: 10.1016/j.ajhg.2025.01.006. Epub 2025 Feb 3.
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From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.从文本到翻译：使用语言模型对变异进行优先级排序以进行临床审查。
medRxiv. 2024 Dec 31:2024.12.31.24319792. doi: 10.1101/2024.12.31.24319792.
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Genetics, Epigenetics, and the Environment: Are Precision Medicine, Provider Compassion, and Social Justice Effective Public Health Measures to Mitigate Disease Risk and Severity?遗传学、表观遗传学和环境：精准医学、医疗提供者的同情心和社会公正是否是减轻疾病风险和严重程度的有效公共卫生措施？
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FUSE: Improving the estimation and imputation of variant impacts in functional screening.FUSE：改进功能筛选中变体影响的估计和插补。
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