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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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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. |
format | Online Article Text |
id | pubmed-10659467 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cold Spring Harbor Laboratory |
record_format | MEDLINE/PubMed |
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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