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