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

Sara Bandrés‐Ciga; Faraz Faghri; Elisa Majounie; Mathew J. Koretsky; Jeffrey Kim; Kristin S. Levine; Hampton L. Leonard; Mary B. Makarious; Hirotaka Iwaki; Peter Wild Crea; Dena G. Hernandez; Sampath Arepalli; Kimberley J. Billingsley; Katja Lohmann; Christine Klein; Steven J Lubbe; Edwin Jabbari; Paula Saffie Awad; Derek P. Narendra; Armando Reyes‐Palomares; John Peter Quinn; Claudia Schulte; Huw R. Morris; Bryan J. Traynor; Sonja W. Scholz; Henry Houlden; John Hardy; Sonya B. Dumanis; Ekemini A. U. Riley; Cornelis Blauwendraat

doi:10.1002/mds.29902

Genetic & Genomic MedicineMovement DisordersSep 16, 2024

Peer-reviewed journal article

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

Sara Bandrés‐Ciga iD, Faraz Faghri iD, Elisa Majounie, Mathew J. Koretsky iD, Jeffrey Kim iD, Kristin S. Levine iD, Hampton L. Leonard iD, Mary B. Makarious iD, Hirotaka Iwaki iD, Peter Wild Crea iD, Dena G. Hernandez iD, Sampath Arepalli, Kimberley J. Billingsley iD, Katja Lohmann iD, Christine Klein iD, Steven J Lubbe iD, Edwin Jabbari iD, Paula Saffie Awad iD, Derek P. Narendra iD, Armando Reyes‐Palomares iD, John Peter Quinn iD, Claudia Schulte iD, Huw R. Morris iD, Bryan J. Traynor iD, Sonja W. Scholz iD, , Dan Vitale iD

Abstract

Genome-wide genotyping platforms have the capacity to capture genetic variation across different populations, but there have been disparities in the representation of population-dependent genetic diversity. The motivation for pursuing this endeavor was to create a comprehensive genome-wide array capable of encompassing a wide range of neuro-specific content for the Global Parkinsons Genetics Program (GP2) and the Center for Alzheimers and Related Dementias (CARD). CARD aims to increase diversity in genetic studies, using this array as a tool to foster inclusivity. GP2 is the first supported resource project of the Aligning Science Across Parkinsons (ASAP) initiative that aims to support a collaborative global effort aimed at significantly accelerating the discovery of genetic factors contributing to Parkinsons disease and atypical parkinsonism by generating genome-wide data for over 200,000 individuals in a multi-ancestry context. Here, we present the Illumina NeuroBooster array (NBA), a novel, high-throughput and cost-effective custom-designed content platform to screen for genetic variation in neurological disorders across diverse populations. The NBA contains a backbone of 1,914,934 variants (Infinium Global Diversity Array) complemented with custom content of 95,273 variants implicated in over 70 neurological conditions or traits with potential neurological complications. Furthermore, the platform includes over 10,000 tagging variants to facilitate imputation and analyses of neurodegenerative disease-related GWAS loci across diverse populations. The NBA can identify low frequency variants and accurately impute over 15 million common variants from the latest release of the TOPMed Imputation Server as of August 2023 (reference of over 300 million variants and 90,000 participants). We envisage this valuable tool will standardize genetic studies in neurological disorders across different ancestral groups, allowing researchers to perform genetic research inclusively and at a global scale.

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