多基因风险评分的临床应用：美国医学遗传学与基因组学学会（ACMG）的一份要点声明 - Suppr

Suppr

超能文献

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

作者信息

Abu-El-Haija Aya, Reddi Honey V, Wand Hannah, Rose Nancy C, Mori Mari, Qian Emily, Murray Michael F

机构信息

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.

Department of Pathology & Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI.

出版信息

Genet Med. 2023 May;25(5):100803. doi: 10.1016/j.gim.2023.100803. Epub 2023 Mar 15.

DOI:10.1016/j.gim.2023.100803

PMID:36920474

Abstract

摘要

相似文献

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).多基因风险评分的临床应用：美国医学遗传学与基因组学学会（ACMG）的一份要点声明

Genet Med. 2023 May;25(5):100803. doi: 10.1016/j.gim.2023.100803. Epub 2023 Mar 15.

Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).多基因风险评分在胚胎选择中的临床应用：美国医学遗传学与基因组学学会（ACMG）的一份要点声明

Genet Med. 2024 Apr;26(4):101052. doi: 10.1016/j.gim.2023.101052. Epub 2024 Feb 23.

Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).疾病多基因风险评分发展的实验室视角：美国医学遗传学与基因组学学会（ACMG）的要点声明

Genet Med. 2023 May;25(5):100804. doi: 10.1016/j.gim.2023.100804. Epub 2023 Mar 27.

Correspondence on "Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)" by Grebe et al.关于Grebe等人的《胚胎选择多基因风险评分的临床应用：美国医学遗传学与基因组学学会（ACMG）的要点声明》的通信

Genet Med. 2024 Aug;26(8):101155. doi: 10.1016/j.gim.2024.101155. Epub 2024 Jun 10.

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).影响临床遗传/基因组检测公平可及性的临床、技术和环境偏倚：美国医学遗传学与基因组学学会（ACMG）的要点声明

Genet Med. 2023 Jun;25(6):100812. doi: 10.1016/j.gim.2023.100812. Epub 2023 Apr 14.

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).尸体解剖后基因检测实践中的注意事项：美国医学遗传学与基因组学学会（ACMG）声明

Genet Med. 2023 May;25(5):100017. doi: 10.1016/j.gim.2023.100017. Epub 2023 Feb 16.

Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG).针对多基因或多因素疾病的直接面向消费者的产前检测：美国医学遗传学与基因组学学会（ACMG）的立场声明

Genet Med. 2021 Nov;23(11):2027-2028. doi: 10.1038/s41436-021-01247-1. Epub 2021 Jun 28.

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).基于家庭的临床基因组检测中评估关系（或怀疑关系错误归因）时需考虑的要点：美国医学遗传学与基因组学学会（ACMG）声明

Genet Med. 2020 Aug;22(8):1285-1287. doi: 10.1038/s41436-020-0821-6. Epub 2020 May 14.

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).医学遗传学家在基因治疗临床试验中的贡献：美国医学遗传学与基因组学学会（ACMG）的一份需考虑要点声明

Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9.

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).生殖系基因和基因组检测中获得性变异的偶然发现：美国医学遗传学与基因组学学会（ACMG）的一份要点声明

Genet Med. 2021 Jul;23(7):1179-1184. doi: 10.1038/s41436-021-01138-5. Epub 2021 Apr 16.

引用本文的文献

R .R.

Res Pract Thromb Haemost. 2025 Jul 18;9(5):102973. doi: 10.1016/j.rpth.2025.102973. eCollection 2025 Jul.

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.遗传性乳腺癌和卵巢癌患者的临床基因组测序：概念、实施与益处。

Breast. 2025 May 15;82:104505. doi: 10.1016/j.breast.2025.104505.

Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.基于多基因的乳腺癌风险预测与患者管理的关联。

JCO Precis Oncol. 2025 May;9:e2400716. doi: 10.1200/PO-24-00716. Epub 2025 May 7.

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores.乳腺癌多基因风险评分的临床应用指南。

Cancers (Basel). 2025 Mar 21;17(7):1056. doi: 10.3390/cancers17071056.

Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review.多基因疾病植入前基因检测的前景与陷阱：一项叙述性综述

F S Rev. 2025 Jun;6(1). doi: 10.1016/j.xfnr.2024.100085. Epub 2024 Dec 19.

Efficient blockLASSO for polygenic scores with applications to all of us and UK Biobank.用于多基因评分的高效分组套索回归及其在“我们所有人”项目和英国生物银行中的应用

BMC Genomics. 2025 Mar 27;26(1):302. doi: 10.1186/s12864-025-11505-0.

Low Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit Their Clinical Utility.主要精神疾病多基因风险评分的低稳定性和特异性限制了其临床应用。

Biol Psychiatry. 2025 Mar 18. doi: 10.1016/j.biopsych.2025.03.006.

Patient perspectives after receiving simulated preconception polygenic risk scores (PRS) for family planning.接受模拟的孕前多基因风险评分（PRS）用于计划生育后的患者观点。

J Assist Reprod Genet. 2025 Mar;42(3):997-1013. doi: 10.1007/s10815-025-03397-6. Epub 2025 Feb 11.

Additive Value of Polygenic Risk Score to Family History for Type 2 Diabetes Prediction: Results From the All of Us Research Database.多基因风险评分对2型糖尿病预测家族史的附加价值：来自“我们所有人”研究数据库的结果

Diabetes Care. 2025 Feb 1;48(2):212-219. doi: 10.2337/dc24-1537.

The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge?非接触性软组织损伤的遗传学基础——遗传学知识有实际应用吗？

Cells. 2024 Nov 5;13(22):1828. doi: 10.3390/cells13221828.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验