Home > Institute Collections > TÜ DZNE > TÜ DZNE-AG Rizzu > NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. > print

001     155333
005     20240209132447.0
024 7 _ |a 10.1016/j.neurobiolaging.2014.07.028
|2 doi
024 7 _ |a pmid:25444595
|2 pmid
024 7 _ |a pmc:PMC4317375
|2 pmc
024 7 _ |a 0197-4580
|2 ISSN
024 7 _ |a 1558-1497
|2 ISSN
037 _ _ |a DZNE-2021-00600
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Nalls, Mike A
|b 0
245 _ _ |a NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
260 _ _ |a Amsterdam [u.a.]
|c 2015
|b Elsevier Science
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1707481436_2407
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a Our objective was to design a genotyping platform that would allow rapid genetic characterization of samples in the context of genetic mutations and risk factors associated with common neurodegenerative diseases. The platform needed to be relatively affordable, rapid to deploy, and use a common and accessible technology. Central to this project, we wanted to make the content of the platform open to any investigator without restriction. In designing this array we prioritized a number of types of genetic variability for inclusion, such as known risk alleles, disease-causing mutations, putative risk alleles, and other functionally important variants. The array was primarily designed to allow rapid screening of samples for disease-causing mutations and large population studies of risk factors. Notably, an explicit aim was to make this array widely available to facilitate data sharing across and within diseases. The resulting array, NeuroX, is a remarkably cost and time effective solution for high-quality genotyping. NeuroX comprises a backbone of standard Illumina exome content of approximately 240,000 variants, and over 24,000 custom content variants focusing on neurologic diseases. Data are generated at approximately $50-$60 per sample using a 12-sample format chip and regular Infinium infrastructure; thus, genotyping is rapid and accessible to many investigators. Here, we describe the design of NeuroX, discuss the utility of NeuroX in the analyses of rare and common risk variants, and present quality control metrics and a brief primer for the analysis of NeuroX derived data.
536 _ _ |a 899 - ohne Topic (POF4-899)
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|f POF IV
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a Genetics
|2 Other
650 _ 7 |a Genotyping
|2 Other
650 _ 7 |a Imputation
|2 Other
650 _ 7 |a Meta-analysis
|2 Other
650 _ 7 |a Methods
|2 Other
650 _ 7 |a Neurodegeneration
|2 Other
650 _ 7 |a Parkinson's
|2 Other
650 _ 2 |a Alleles
|2 MeSH
650 _ 2 |a Costs and Cost Analysis
|2 MeSH
650 _ 2 |a Genetic Association Studies: methods
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease: genetics
|2 MeSH
650 _ 2 |a Genetic Variation
|2 MeSH
650 _ 2 |a Genotyping Techniques: economics
|2 MeSH
650 _ 2 |a Genotyping Techniques: methods
|2 MeSH
650 _ 2 |a Neurodegenerative Diseases: genetics
|2 MeSH
650 _ 2 |a Oligonucleotide Array Sequence Analysis: methods
|2 MeSH
700 1 _ |a Bras, Jose
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700 1 _ |a Hernandez, Dena G
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700 1 _ |a Majounie, Elisa
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700 1 _ |a Lubbe, Steven
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700 1 _ |a Consortium, International Parkinson's Disease Genomics
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700 1 _ |a consortium, Parkinson's Disease meta-analysis
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700 1 _ |a Plagnol, Vincent
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773 _ _ |a 10.1016/j.neurobiolaging.2014.07.028
|g Vol. 36, no. 3, p. 1605.e7 - 1605.e12
|0 PERI:(DE-600)1498414-3
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|p 1605.e7 - 1605.e12
|t Neurobiology of aging
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