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  NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Nalls, M. A., Bras, J., Hernandez, G. D., Keller, M. F., Majounie, E., Renton, A. E., et al. (2015). NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiology of Aging, 36(3), 1605.e7-1605.e12. doi:10.1016/j.neurobiolaging.2014.07.028.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-AA39-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-AA3A-B
Genre: Journal Article

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© 2014 Elsevier B.V.
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 Creators:
Nalls, M. A., Author
Bras, J., Author
Hernandez, G. D., Author
Keller, M. F., Author
Majounie, E., Author
Renton, A. E., Author
Saad, M., Author
Jansen, I., Author
Guerreiro, R., Author
Lubbe, S., Author
Plagnol, V., Author
Gibbs, R., Author
Schulte, C., Author
Pankratz, N., Author
Sutherland, M., Author
Bertram, L.1, Author              
Lill, C. M.1, Author              
DeStefano, A. L., Author
Faroud, T., Author
Eriksson, N., Author
Tung, J. Y., AuthorEdsall, C., AuthorNichols, N., AuthorBrooks, J., AuthorArepalli, S., AuthorPliner, H., AuthorLetson, C., AuthorHeutink, P., AuthorMartinez, M., AuthorGasser, T., AuthorTraynor, B. J., AuthorWood, N., AuthorHardy, J., AuthorSingleton, A. B., Author more..
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              

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Free keywords: Genotyping; Methods; Genetics; Neurodegeneration; Parkinson's; Meta-analysis; Imputation
 Abstract: 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.

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Language(s): eng - English
 Dates: 2014-08-042015-03
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
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Title: Neurobiology of Aging
  Other : Neurobiol. Aging
Source Genre: Journal
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Publ. Info: New York, NY [etc.] : Elsevier
Pages: - Volume / Issue: 36 (3) Sequence Number: - Start / End Page: 1605.e7 - 1605.e12 Identifier: ISSN: 0197-4580
CoNE: https://pure.mpg.de/cone/journals/resource/954925491902