Reference : NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
Blauwendraat, Cornelis []
Faghri, Faraz []
Pihlstrom, Lasse []
Geiger, Joshua T. []
Elbaz, Alexis []
Lesage, Susanne []
May, Patrick mailto [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 mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Balling, Rudi mailto [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 mailto [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. []
Neurobiology of Aging
Yes (verified by ORBilu)
New York
[en] Genotyping ; NeuroX ; NeuroChip ; Genetic Screening ; Neurodegeneration
[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.
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) ; University of Luxembourg: High Performance Computing - ULHPC ; Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
JPND Courage
H2020 ; 692320 - CENTRE-PD - TWINNING for a Comprehensive Clinical Centre for the Diagnosis and Treatment of Parkinson's Disease

File(s) associated to this reference

Fulltext file(s):

Open access
1-s2.0-S0197458017301641-main.pdfAuthor postprint725.93 kBView/Open

Bookmark and Share SFX Query

All documents in ORBilu are protected by a user license.