. 2024 Nov;39(11):2039-2048.

doi: 10.1002/mds.29902. Epub 2024 Sep 16.

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

Sara Bandres-Ciga¹, Faraz Faghri^{1

2}, Elisa Majounie³, Mathew J Koretsky¹, Jeffrey Kim^{1

4}, Kristin S Levine^{1

2}, Hampton Leonard^{1

2}, Mary B Makarious^{4

5}, Hirotaka Iwaki^{1

2}, Peter Wild Crea^{1

4}, Dena G Hernandez⁴, Sampath Arepalli⁴, Kimberley Billingsley^{1

4}, Katja Lohmann⁶, Christine Klein⁶, Steven J Lubbe^{7

8}, Edwin Jabbari⁵, Paula Saffie-Awad^{9

10

11}, Derek Narendra¹², Armando Reyes-Palomares¹³, John P Quinn¹⁴, Claudia Schulte¹⁵, Huw R Morris^{5

16}, Bryan J Traynor^{17

18}, Sonja W Scholz¹⁹, Henry Houlden^{16

20}, John Hardy^{16

21}, Sonya Dumanis¹⁶, Ekemini Riley¹⁶, Cornelis Blauwendraat^{1

4}, Andrew Singleton^{1

4}, Mike Nalls^{1

2}, Janina Jeff³, Dan Vitale^{1

2}; Global Parkinson's Genetics Program (GP2) and the Center for Alzheimer's and Related Dementias (CARD)

Affiliations

¹ Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
² Data Tecnica, Washington, District of Columbia, USA.
³ Illumina Inc, San Diego, California, USA.
⁴ Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
⁵ Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.
⁶ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
⁷ Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
⁸ Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
⁹ Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
¹⁰ Centro de Trastornos del Movimiento, Santiago, Chile.
¹¹ Clínica Santa María, Santiago, Chile.
¹² Inherited Movement Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
¹³ Department of Molecular Biology and Biochemistry, Faculty of Sciences, University of Málaga, Málaga, Spain.
¹⁴ Department of Pharmacology & Therapeutics, University of Liverpool, Liverpool, United Kingdom.
¹⁵ Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen and German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany.
¹⁶ Aligning Science Across Parkinson's Collaborative Research Network, Chevy Chase, Maryland, USA.
¹⁷ Department of Neurology, Johns Hopkins University Medical Center, Baltimore, Maryland, USA.
¹⁸ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
¹⁹ Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
²⁰ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
²¹ Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

PMID: 39283294
PMCID: PMC11568947 (available on 2025-11-01)
DOI: 10.1002/mds.29902

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

Sara Bandres-Ciga et al. Mov Disord. 2024 Nov.

. 2024 Nov;39(11):2039-2048.

doi: 10.1002/mds.29902. Epub 2024 Sep 16.

Authors

Affiliations

¹ Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
² Data Tecnica, Washington, District of Columbia, USA.
³ Illumina Inc, San Diego, California, USA.
⁴ Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
⁵ Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, United Kingdom.
⁶ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
⁷ Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
⁸ Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
⁹ Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
¹⁰ Centro de Trastornos del Movimiento, Santiago, Chile.
¹¹ Clínica Santa María, Santiago, Chile.
¹² Inherited Movement Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
¹³ Department of Molecular Biology and Biochemistry, Faculty of Sciences, University of Málaga, Málaga, Spain.
¹⁴ Department of Pharmacology & Therapeutics, University of Liverpool, Liverpool, United Kingdom.
¹⁵ Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen and German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany.
¹⁶ Aligning Science Across Parkinson's Collaborative Research Network, Chevy Chase, Maryland, USA.
¹⁷ Department of Neurology, Johns Hopkins University Medical Center, Baltimore, Maryland, USA.
¹⁸ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
¹⁹ Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
²⁰ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
²¹ Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

PMID: 39283294
PMCID: PMC11568947 (available on 2025-11-01)
DOI: 10.1002/mds.29902

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.

Keywords: Centre for Alzheimer's and Related Dementias; Global Parkinson's Genetics Program; NeuroBooster array; diversity; genetic screening; genotyping; neurological diseases.

© 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.

PubMed Disclaimer

Conflict of interest statement

Potential Conflicts of Interest:

DV, FF, HLL HI, KSL, and MAN declare that they are consultants employed by Data Tecnica International, whose participation in this is part of a consulting agreement between the US National Institutes of Health and said company. MAN also an advisor to Neuron23 Inc and Character Biosciences. SWS serves on the Scientific Advisory Council of the Lewy Body Dementia Association and the Multiple System Atrophy Coalition. S.W.S. and B.J.T. receive research support from Cerevel Therapeutics. HRM is employed by UCL. In the last 12 months he reports paid consultancy from Roche, Aprinoia, AI Therapeutics and Amylyx ; lecture fees/honoraria-BMJ, Kyowa Kirin, Movement Disorders Society. Research Grants from Parkinson’s UK, Cure Parkinson’s Trust, PSP Association, Medical Research Council, Michael J Fox Foundation. Dr Morris is a co-applicant on a patent application related to C9ORF72 - Method for diagnosing a neurodegenerative disease (PCT/GB2012/052140). Dr. Christine Klein is a Medical Advisor to Centogene and Retromer Therapeutics and Speakers’ honoraria from Desitin and Bial.

Update of

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
Bandres-Ciga S, Faghri F, Majounie E, Koretsky MJ, Kim J, Levine KS, Leonard H, Makarious MB, Iwaki H, Crea PW, Hernandez DG, Arepalli S, Billingsley K, Lohmann K, Klein C, Lubbe SJ, Jabbari E, Saffie-Awad P, Narendra D, Reyes-Palomares A, Quinn JP, Schulte C, Morris HR, Traynor BJ, Scholz SW, Houlden H, Hardy J, Dumanis S, Riley E, Blauwendraat C, Singleton A, Nalls M, Jeff J, Vitale D. Bandres-Ciga S, et al. medRxiv [Preprint]. 2023 Nov 14:2023.11.06.23298176. doi: 10.1101/2023.11.06.23298176. medRxiv. 2023. Update in: Mov Disord. 2024 Nov;39(11):2039-2048. doi: 10.1002/mds.29902. PMID: 37986980 Free PMC article. Updated. Preprint.

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Update of

References

MeSH terms

Grants and funding

LinkOut - more resources

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Medical