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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
- Source :
- Neurobiology of Aging, Neurobiology of aging 57, 247.e9-247.e13 (2017). doi:10.1016/j.neurobiolaging.2017.05.009
- Publication Year :
- 2017
- Publisher :
- Elsevier BV, 2017.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Aging
methods [Genome-Wide Association Study]
0302 clinical medicine
Corticobasal degeneration
neurodegenerative diseases
humans
risk
high-throughput screening assays
education.field_of_study
General Neuroscience
neurodegeneration
genetics [Genetic Variation]
3. Good health
Neurochip
alleles
methods [Genotyping Techniques]
Frontotemporal dementia
Risk
Population
methods [High-Throughput Screening Assays]
Computational biology
Genetic screening
genotyping
NeuroChip
NeuroX
apolipoproteins E
genetic variation
genome-wide association study
genotyping techniques
Article
Progressive supranuclear palsy
03 medical and health sciences
Apolipoproteins E
medicine
Humans
Dementia
ddc:610
education
Genotyping
Alleles
business.industry
medicine.disease
030104 developmental biology
genetics [Neurodegenerative Diseases]
genetics [Apolipoproteins E]
Neurology (clinical)
Geriatrics and Gerontology
business
Neuroscience
030217 neurology & neurosurgery
Imputation (genetics)
Developmental Biology
Subjects
Details
- ISSN :
- 01974580
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- Neurobiology of Aging
- Accession number :
- edsair.doi.dedup.....c65471285ddf63c5acb2ebcd54d52517