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The Present and Future of Genetic Sequencing as Applied to Diagnosis and Management in Rheumatology.

作者信息

Liebowitz Jason, Milo Rasouly Hila, Bogyo Kelsie, Petukhova Lynn, Bernstein Elana J, Schwartz Daniella M, Grayson Peter C, Beck David, Luo Yiming

机构信息

Columbia University Irving Medical Center, New York City, New York.

New York University Grossman School of Medicine, New York City.

出版信息

Arthritis Rheumatol. 2025 Apr 4. doi: 10.1002/art.43169.

DOI:10.1002/art.43169
PMID:40181789
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12353976/
Abstract
摘要

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本文引用的文献

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Arthritis Rheumatol. 2024 Nov;76(11):1577-1581. doi: 10.1002/art.42943. Epub 2024 Aug 1.
2
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.重症监护病房中用于遗传疾病诊断和治疗的快速基因组测序：综述
NPJ Genom Med. 2024 Feb 27;9(1):17. doi: 10.1038/s41525-024-00404-0.
3
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.选择、优化和验证十种用于美国不同人群临床应用的慢性病多基因风险评分。
Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19.
4
A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting.多基因风险评分加入 QRISK®2 心血管疾病风险计算器在初级保健环境中表现出强大的临床可接受性和临床实用性。
Eur J Prev Cardiol. 2024 Apr 18;31(6):716-722. doi: 10.1093/eurjpc/zwae004.
5
Clonal haematopoiesis across the age spectrum of vasculitis patients with Takayasu's arteritis, ANCA-associated vasculitis and giant cell arteritis.在 Takayasu 动脉炎、抗中性粒细胞胞浆抗体相关性血管炎和巨细胞动脉炎的血管炎患者年龄谱中出现的克隆性造血。
Ann Rheum Dis. 2024 Mar 12;83(4):508-517. doi: 10.1136/ard-2023-224933.
6
Attitudes towards genetic testing: The role of genetic literacy, motivated cognition, and socio-demographic characteristics.对基因检测的态度：遗传素养、动机认知和社会人口特征的作用。
PLoS One. 2023 Nov 15;18(11):e0293187. doi: 10.1371/journal.pone.0293187. eCollection 2023.
7
Variant and Response to Ruxolitinib in an Autoinflammatory Syndrome.自身炎症性疾病中 Ruxolitinib 的变异体和反应。
N Engl J Med. 2023 Jun 15;388(24):2241-2252. doi: 10.1056/NEJMoa2202318. Epub 2023 May 31.
8
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.腺苷脱氨酶 2 缺乏症的评估和管理：国际共识声明。
JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894.
9
Polygenic scoring accuracy varies across the genetic ancestry continuum.多基因评分准确性在遗传祖先连续体上有所差异。
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Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.全基因组荟萃分析确定了93个风险位点，并实现了等同于单基因形式静脉血栓栓塞症的风险预测。
Nat Genet. 2023 Mar;55(3):399-409. doi: 10.1038/s41588-022-01286-7. Epub 2023 Jan 19.