Article (Scientific journals)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
Blauwendraat, Cornelis; Faghri, Faraz; Pihlstrom, Lasse et al.
2017In Neurobiology of Aging
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Keywords :
Genotyping; NeuroX; NeuroChip; Genetic Screening; Neurodegeneration
Abstract :
[en] Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk variants. Previously, we introduced the NeuroX Illumina genotyping array, a fast and efficient genotyping platform designed for the investigation of genetic variation in neurodegenerative diseases. Here, we present its updated version, named NeuroChip. The NeuroChip is a low cost, custom-designed array containing a tagging variant backbone of about 306,670 variants complemented with a manually curated custom content comprised of 179,467 variants implicated in diverse neurological diseases, including Alzheimer’s disease, Parkinson’s disease, Lewy body dementia, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration and multiple system atrophy. The tagging backbone was chosen because of the low cost and good genome-wide resolution; the custom content can be combined with other backbones, like population or drug development arrays. Using the NeuroChip, we can accurately identify rare variants and impute over 5.3 million common SNPs from the latest release of the Haplotype Reference Consortium. In summary, we describe the design and usage of the NeuroChip array, and show its capability for detecting rare pathogenic variants in numerous neurodegenerative diseases. The NeuroChip has a more comprehensive and improved content, which makes it a reliable, high-throughput, cost-effective screening tool for genetic research and molecular diagnostics in neurodegenerative diseases.
Research center :
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
- Luxembourg Centre for Systems Biomedicine (LCSB): Biomedical Data Science (Glaab Group)
ULHPC - University of Luxembourg: High Performance Computing
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Genetics & genetic processes
Author, co-author :
Blauwendraat, Cornelis
Faghri, Faraz
Pihlstrom, Lasse
Geiger, Joshua T.
Elbaz, Alexis
Lesage, Susanne
May, Patrick  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Aude, Nicolas
Abramzon, Yevgeniya
Murphy, Natalie A.
Gibbs, J. Raphael
Ryten, Mina
Ferrari, Raffaele
Bras, Jose
Guerreiro, Rita
Williams, Julie
Sims, Rebecca
Lubbe, Steven
Hernandez, Dena G.
Mok, Kin Y.
Robak, Laurie
Camphell, Roy H.
Rogaeva, Ekaterina
Traynor, Bryan J.
Chia, Ruth
Chung, Sun Ju
International Parkinson’s Disease Genomics Consortium (IPDGC)
COURAGE-PD Consortium
Glaab, Enrico  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Balling, Rudi ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Hardy, John A.
Brice, Alexis
Houlden, Henry
Shulman, Joshua M.
Morris, Huw R.
Gasser, Thomas
Heutink, Peter
Krüger, Rejko ;  University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit
Sharma, Manu
Simon-Sanchez, Javier
Nalls, Mike A.
Singleton, Andrew B.
Scholz, Sonja W.
More authors (33 more) Less
External co-authors :
yes
Language :
English
Title :
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
Publication date :
17 May 2017
Journal title :
Neurobiology of Aging
ISSN :
1558-1497
Publisher :
Elsevier, New York, United States - New York
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
European Projects :
H2020 - 692320 - CENTRE-PD - TWINNING for a Comprehensive Clinical Centre for the Diagnosis and Treatment of Parkinson's Disease
Name of the research project :
JPND Courage
Funders :
CE - Commission Européenne [BE]
Available on ORBilu :
since 24 May 2017

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