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

被引:4
|
作者
Bandres-Ciga, Sara [1 ,2 ]
Faghri, Faraz [1 ,2 ,3 ]
Majounie, Elisa [4 ]
Koretsky, Mathew J. [1 ,2 ]
Kim, Jeffrey [1 ,2 ,5 ]
Levine, Kristin S. [1 ,2 ,3 ]
Leonard, Hampton [1 ,2 ,3 ]
Makarious, Mary B. [5 ,6 ]
Iwaki, Hirotaka [1 ,2 ,3 ]
Crea, Peter Wild [1 ,2 ,5 ]
Hernandez, Dena G. [5 ]
Arepalli, Sampath [5 ]
Billingsley, Kimberley [1 ,2 ,5 ]
Lohmann, Katja [7 ]
Klein, Christine [7 ]
Lubbe, Steven J. [8 ,9 ]
Jabbari, Edwin [6 ]
Saffie-Awad, Paula [10 ,11 ,12 ]
Narendra, Derek [13 ]
Reyes-Palomares, Armando [14 ]
Quinn, John P. [15 ]
Schulte, Claudia [16 ,17 ]
Morris, Huw R. [6 ,18 ]
Traynor, Bryan J. [19 ,20 ]
Scholz, Sonja W. [21 ]
Houlden, Henry [22 ]
Hardy, John [23 ]
Dumanis, Sonya [18 ]
Riley, Ekemini [18 ]
Blauwendraat, Cornelis [1 ,2 ,5 ]
Singleton, Andrew [1 ,2 ,5 ]
Nalls, Mike [1 ,3 ]
Jeff, Janina [4 ]
Vitale, Dan [1 ,3 ]
机构
[1] NIA, Ctr Alzheimers & Related Dementias, Bethesda, MD USA
[2] Natl Inst Neurol Disorders & Stroke, NIH, Bethesda, MD USA
[3] Data Tecn, Washington, DC USA
[4] Illumina Inc, San Diego, CA USA
[5] NIA, Lab Neurogenet, NIH, Bethesda, MD USA
[6] UCL, Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England
[7] Univ Lubeck, Inst Neurogenet, Lubeck, Germany
[8] Northwestern Univ, Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL USA
[9] Northwestern Univ, Simpson Querrey Ctr Neurogenet, Feinberg Sch Med, Chicago, IL USA
[10] Univ Fed Rio Grande Do Sul, Programa Posgrad Ciencias Med, Porto Alegre, Brazil
[11] Ctr Trastornos Movimiento, Santiago, Chile
[12] Clin Santa Maria, Santiago, Chile
[13] Natl Inst Neurol Disorders & Stroke, Inherited Movement Disorders Unit, Neurogenet Branch, Div Intramural Res,NIH, Bethesda, MD USA
[14] Univ Malaga, Fac Sci, Dept Mol Biol & Biochem, Malaga, Spain
[15] Univ Liverpool, Dept Pharmacol & Therapeut, Liverpool, England
[16] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany
[17] Univ Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany
[18] Aligning Sci Parkinsons Collaborat Res Network, Chevy Chase, MD USA
[19] Johns Hopkins Univ, Med Ctr, Dept Neurol, Baltimore, MD USA
[20] NIA, Neuromuscular Dis Res Sect, Lab Neurogenet, Bethesda, MD USA
[21] Natl Inst Neurol Disorders & Stroke, Neurodegenerat Dis Res Unit, Bethesda, MD USA
[22] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[23] UCL Queen Sq Inst Neurol, Dept Neurodegenerat Dis, London, England
基金
美国国家卫生研究院;
关键词
Centre for Alzheimer's and Related Dementias; diversity; genetic screening; genotyping; Global Parkinson's Genetics Program; NeuroBooster array; neurological diseases; RISK LOCI; IDENTIFICATION; METAANALYSIS; DISEASE;
D O I
10.1002/mds.29902
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background:Commercial genome-widegenotyping arrays have historically neglected coverageof 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 inneurological disorders across multiple ancestral groups,fostering diversity and inclusivity in research studies. Methods:We developed the Illumina NeuroBoosterArray (NBA), a custom high-throughput and cost-effective platform on a backbone of 1,914,934 variantsfrom the Infinium Global Diversity Array and added cus-tom content comprising 95,273 variants associated withmore than 70 neurological conditions or traits, and wefurther tested its performance on more than 2000 patientsamples. This novel platform includes approximately10,000 tagging variants to facilitate imputation and ana-lyses of neurodegenerative disease-related genome-wide association study loci across diverse populations. Results:In this article, we describe NBA's potential asan efficient means for researchers to assess known andnovel disease genetic associations in a multi-ancestryframework. The NBA can identify rare genetic variantsand accurately impute more than 15 million common var-iants across populations. Apart from enabling sample pri-oritization for further whole-genome sequencing studies,we envisage that NBA will play a pivotal role in recruit-ment for interventional studies in the precision medicinespace. Conclusions:From a broader perspective, the NBAserves as a promising means to foster collaborativeresearch endeavors in thefield of neurological disor-ders worldwide. Ultimately, this carefully designed toolis poised to make a substantial contribution touncovering the genetic etiology underlying these debili-tating conditions. (c) 2024 The Author(s).MovementDisorderspublished by Wiley Periodicals LLC on behalfof International Parkinson and Movement DisorderSociety. This article has been contributed to by U.S.Government employees and their work is in the publicdomain in the USA.
引用
收藏
页码:2039 / 2048
页数:10
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