NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY Movement Disorders Pub Date : 2024-09-16 DOI:10.1002/mds.29902

Sara Bandres-Ciga, Faraz Faghri, Elisa Majounie, Mathew J Koretsky, Jeffrey Kim, Kristin S Levine, Hampton Leonard, Mary B Makarious, Hirotaka Iwaki, Peter Wild Crea, Dena G Hernandez, Sampath Arepalli, Kimberley Billingsley, Katja Lohmann, Christine Klein, Steven J Lubbe, Edwin Jabbari, Paula Saffie-Awad, Derek Narendra, Armando Reyes-Palomares, John P Quinn, Claudia Schulte, Huw R Morris, Bryan J Traynor, Sonja W Scholz, Henry Houlden, John Hardy, Sonya Dumanis, Ekemini Riley, Cornelis Blauwendraat, Andrew Singleton, Mike Nalls, Janina Jeff, Dan Vitale

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Abstract

Background: Commercial genome-wide genotyping arrays have historically neglected coverage of genetic variation across populations.

Objective: We aimed to create a multi-ancestry genome-wide array that would include a wide range of neuro-specific genetic content to facilitate genetic research in neurological disorders across multiple ancestral groups, fostering diversity and inclusivity in research studies.

Methods: We developed the Illumina NeuroBooster Array (NBA), a custom high-throughput and cost-effective platform on a backbone of 1,914,934 variants from the Infinium Global Diversity Array and added custom content comprising 95,273 variants associated with more than 70 neurological conditions or traits, and we further tested its performance on more than 2000 patient samples. This novel platform includes approximately 10,000 tagging variants to facilitate imputation and analyses of neurodegenerative disease-related genome-wide association study loci across diverse populations.

Results: In this article, we describe NBA's potential as an efficient means for researchers to assess known and novel disease genetic associations in a multi-ancestry framework. The NBA can identify rare genetic variants and accurately impute more than 15 million common variants across populations. Apart from enabling sample prioritization for further whole-genome sequencing studies, we envisage that NBA will play a pivotal role in recruitment for interventional studies in the precision medicine space.

Conclusions: From a broader perspective, the NBA serves as a promising means to foster collaborative research endeavors in the field of neurological disorders worldwide. Ultimately, this carefully designed tool is poised to make a substantial contribution to uncovering the genetic etiology underlying these debilitating conditions. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

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NeuroBooster 阵列：研究不同人群神经系统疾病的全基因组基因分型平台。

背景：商业全基因组基因分型阵列历来忽视对不同人群遗传变异的覆盖：商业全基因组基因分型阵列历来忽视对不同人群遗传变异的覆盖：我们的目标是创建一个多祖先全基因组阵列，该阵列将包含广泛的神经特异性遗传内容，以促进跨多个祖先群体的神经系统疾病遗传研究，促进研究的多样性和包容性：我们开发了Illumina NeuroBooster Array（NBA），这是一个定制的高通量、高性价比平台，以Infinium Global Diversity Array的1,914,934个变异为基础，添加了与70多种神经疾病或性状相关的95,273个变异的定制内容，并在2000多个患者样本上对其性能进行了进一步测试。这个新颖的平台包括约 10,000 个标记变异，便于对不同人群中与神经退行性疾病相关的全基因组关联研究位点进行估算和分析：在这篇文章中，我们描述了 NBA 作为研究人员在多种群框架内评估已知和新型疾病遗传关联的有效手段的潜力。NBA 可以识别罕见的遗传变异，并在不同人群中准确估算出 1,500 多万个常见变异。除了能为进一步的全基因组测序研究确定样本的优先顺序外，我们预计NBA还将在精准医疗领域的干预研究招募中发挥关键作用：从更广阔的视角来看，NBA 是促进全球神经系统疾病领域合作研究的有效手段。最终，这一精心设计的工具将为揭示这些使人衰弱的疾病的遗传病因做出重大贡献。©2024年作者。运动障碍》由 Wiley Periodicals LLC 代表国际帕金森和运动障碍协会出版。本文由美国政府雇员撰写，其作品在美国属于公共领域。

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来源期刊

Movement Disorders 医学-临床神经学

CiteScore

13.30

自引率

8.10%

发文量

371

审稿时长

12 months

期刊介绍： Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.

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