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

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 cap...

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Autores principales: Bandres-Ciga, Sara, Faghri, Faraz, Majounie, Elisa, Koretsky, Mathew J, Kim, Jeffrey, Levine, Kristin S, Leonard, Hampton, Makarious, Mary B, Iwaki, Hirotaka, Crea, Peter Wild, Hernandez, Dena G, Arepalli, Sampath, Billingsley, Kimberley, Lohmann, Katja, Klein, Christine, Lubbe, Steven J, Jabbari, Edwin, Saffie-Awad, Paula, Narendra, Derek, Reyes-Palomares, Armando, Quinn, John P, Schulte, Claudia, Morris, Huw R, Traynor, Bryan J., Scholz, Sonja W., Houlden, Henry, Hardy, John, Dumanis, Sonya, Riley, Ekemini, Blauwendraat, Cornelis, Singleton, Andrew, Nalls, Mike, Jeff, Janina, Vitale, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
https://www.ncbi.nlm.nih.gov/pubmed/37986980
http://dx.doi.org/10.1101/2023.11.06.23298176
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author Bandres-Ciga, Sara
Faghri, Faraz
Majounie, Elisa
Koretsky, Mathew J
Kim, Jeffrey
Levine, Kristin S
Leonard, Hampton
Makarious, Mary B
Iwaki, Hirotaka
Crea, Peter Wild
Hernandez, Dena G
Arepalli, Sampath
Billingsley, Kimberley
Lohmann, Katja
Klein, Christine
Lubbe, Steven J
Jabbari, Edwin
Saffie-Awad, Paula
Narendra, Derek
Reyes-Palomares, Armando
Quinn, John P
Schulte, Claudia
Morris, Huw R
Traynor, Bryan J.
Scholz, Sonja W.
Houlden, Henry
Hardy, John
Dumanis, Sonya
Riley, Ekemini
Blauwendraat, Cornelis
Singleton, Andrew
Nalls, Mike
Jeff, Janina
Vitale, Dan
author_facet Bandres-Ciga, Sara
Faghri, Faraz
Majounie, Elisa
Koretsky, Mathew J
Kim, Jeffrey
Levine, Kristin S
Leonard, Hampton
Makarious, Mary B
Iwaki, Hirotaka
Crea, Peter Wild
Hernandez, Dena G
Arepalli, Sampath
Billingsley, Kimberley
Lohmann, Katja
Klein, Christine
Lubbe, Steven J
Jabbari, Edwin
Saffie-Awad, Paula
Narendra, Derek
Reyes-Palomares, Armando
Quinn, John P
Schulte, Claudia
Morris, Huw R
Traynor, Bryan J.
Scholz, Sonja W.
Houlden, Henry
Hardy, John
Dumanis, Sonya
Riley, Ekemini
Blauwendraat, Cornelis
Singleton, Andrew
Nalls, Mike
Jeff, Janina
Vitale, Dan
author_sort Bandres-Ciga, Sara
collection PubMed
description 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 Parkinson’s Genetics Program (GP2) and the Center for Alzheimer’s 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 Parkinson’s (ASAP) initiative that aims to support a collaborative global effort aimed at significantly accelerating the discovery of genetic factors contributing to Parkinson’s 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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spelling pubmed-106594672023-11-20 NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations Bandres-Ciga, Sara Faghri, Faraz Majounie, Elisa Koretsky, Mathew J Kim, Jeffrey Levine, Kristin S Leonard, Hampton Makarious, Mary B Iwaki, Hirotaka Crea, Peter Wild Hernandez, Dena G Arepalli, Sampath Billingsley, Kimberley Lohmann, Katja Klein, Christine Lubbe, Steven J Jabbari, Edwin Saffie-Awad, Paula Narendra, Derek Reyes-Palomares, Armando Quinn, John P Schulte, Claudia Morris, Huw R Traynor, Bryan J. Scholz, Sonja W. Houlden, Henry Hardy, John Dumanis, Sonya Riley, Ekemini Blauwendraat, Cornelis Singleton, Andrew Nalls, Mike Jeff, Janina Vitale, Dan medRxiv Article 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 Parkinson’s Genetics Program (GP2) and the Center for Alzheimer’s 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 Parkinson’s (ASAP) initiative that aims to support a collaborative global effort aimed at significantly accelerating the discovery of genetic factors contributing to Parkinson’s 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. Cold Spring Harbor Laboratory 2023-11-14 /pmc/articles/PMC10659467/ /pubmed/37986980 http://dx.doi.org/10.1101/2023.11.06.23298176 Text en https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use.
spellingShingle Article
Bandres-Ciga, Sara
Faghri, Faraz
Majounie, Elisa
Koretsky, Mathew J
Kim, Jeffrey
Levine, Kristin S
Leonard, Hampton
Makarious, Mary B
Iwaki, Hirotaka
Crea, Peter Wild
Hernandez, Dena G
Arepalli, Sampath
Billingsley, Kimberley
Lohmann, Katja
Klein, Christine
Lubbe, Steven J
Jabbari, Edwin
Saffie-Awad, Paula
Narendra, Derek
Reyes-Palomares, Armando
Quinn, John P
Schulte, Claudia
Morris, Huw R
Traynor, Bryan J.
Scholz, Sonja W.
Houlden, Henry
Hardy, John
Dumanis, Sonya
Riley, Ekemini
Blauwendraat, Cornelis
Singleton, Andrew
Nalls, Mike
Jeff, Janina
Vitale, Dan
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
title NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
title_full NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
title_fullStr NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
title_full_unstemmed NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
title_short NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
title_sort neurobooster array: a genome-wide genotyping platform to study neurological disorders across diverse populations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659467/
https://www.ncbi.nlm.nih.gov/pubmed/37986980
http://dx.doi.org/10.1101/2023.11.06.23298176
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