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巴西的群体分子遗传学:从基因组数据库与研究到精准医学的实施。

Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine.

作者信息

de Oliveira Thais C, Lopes-Cendes Iscia

机构信息

Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas - UNICAMP, Tessália Vieira de Camargo, 126. Cidade Universitária "Zeferino Vaz", Campinas, SP, 13083-888, Brazil.

The Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, Brazil.

出版信息

J Community Genet. 2024 Nov 19. doi: 10.1007/s12687-024-00752-5.

DOI:10.1007/s12687-024-00752-5
PMID:39557816
Abstract

Precision medicine (PM) stands on the brink of revolutionizing medical practice throughout the world, holding significant potential for enhancing patient outcomes. However, its practical implementation, particularly in resource-limited countries, is not without challenges. The success of PM largely hinges on the availability of extensive datasets, including genetic and genomic information. This paper delves into the PM landscape and the current state of genetic and genomic testing in Brazil. We also shed light on the unique challenges posed by the country's diverse population and discuss ongoing initiatives to tackle these obstacles.

摘要

精准医学(PM)正处于彻底改变全球医疗实践的边缘,在改善患者治疗效果方面具有巨大潜力。然而,其实际应用,尤其是在资源有限的国家,并非没有挑战。精准医学的成功很大程度上取决于大量数据集的可用性,包括遗传和基因组信息。本文深入探讨了巴西的精准医学现状以及遗传和基因组检测的当前状况。我们还阐明了该国多样化人口所带来的独特挑战,并讨论了为应对这些障碍而正在开展的举措。

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本文引用的文献

1
Optimal population-specific HLA imputation with dimension reduction.基于降维的最优群体特异性 HLA 推断。
HLA. 2024 Jan;103(1):e15282. doi: 10.1111/tan.15282. Epub 2023 Nov 11.
2
Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data.基于全基因组测序数据对巴西老年混合队列中的药物基因组变异进行特征分析。
Front Pharmacol. 2023 May 10;14:1178715. doi: 10.3389/fphar.2023.1178715. eCollection 2023.
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Geographic accessibility to cancer treatment in Brazil: A network analysis.
巴西癌症治疗的地理可及性:一项网络分析。
Lancet Reg Health Am. 2021 Dec 23;7:100153. doi: 10.1016/j.lana.2021.100153. eCollection 2022 Mar.
4
A review of ancestrality and admixture in Latin America and the caribbean focusing on native American and African descendant populations.对拉丁美洲和加勒比地区的祖先起源与混合情况的综述,重点关注美洲原住民和非洲裔后代群体。
Front Genet. 2023 Jan 19;14:1091269. doi: 10.3389/fgene.2023.1091269. eCollection 2023.
5
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.提高巴西罕见病诊断中使用外显子组测序和全基因组测序的挑战和建议:专家视角。
Int J Equity Health. 2023 Jan 13;22(1):11. doi: 10.1186/s12939-022-01809-y.
6
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.未受影响个体非综合征性听力损失的基因组研究:巴西2097个基因组队列中致病和可能致病变异的频率
Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022.
7
Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.对500名患有罕见病的巴西患者进行外显子组测序:我们所了解到的情况。
Sao Paulo Med J. 2022 Sep-Oct;140(5):734-736. doi: 10.1590/1516-3180.2022.0076.R1.21072022.
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The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.巴西罕见基因组计划:全基因组测序用于罕见病诊断的验证
Front Mol Biosci. 2022 May 2;9:821582. doi: 10.3389/fmolb.2022.821582. eCollection 2022.
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Front Genet. 2022 Apr 26;13:795992. doi: 10.3389/fgene.2022.795992. eCollection 2022.
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Heliyon. 2021 Apr 21;7(4):e06850. doi: 10.1016/j.heliyon.2021.e06850. eCollection 2021 Apr.