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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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© 2014 Elsevier B.V.
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 Urheber:
Nalls, M. A., Autor
Bras, J., Autor
Hernandez, G. D., Autor
Keller, M. F., Autor
Majounie, E., Autor
Renton, A. E., Autor
Saad, M., Autor
Jansen, I., Autor
Guerreiro, R., Autor
Lubbe, S., Autor
Plagnol, V., Autor
Gibbs, R., Autor
Schulte, C., Autor
Pankratz, N., Autor
Sutherland, M., Autor
Bertram, L.1, Autor           
Lill, C. M.1, Autor           
DeStefano, A. L., Autor
Faroud, T., Autor
Eriksson, N., Autor
Tung, J. Y., AutorEdsall, C., AutorNichols, N., AutorBrooks, J., AutorArepalli, S., AutorPliner, H., AutorLetson, C., AutorHeutink, P., AutorMartinez, M., AutorGasser, T., AutorTraynor, B. J., AutorWood, N., AutorHardy, J., AutorSingleton, A. B., Autor mehr..
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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Schlagwörter: Genotyping; Methods; Genetics; Neurodegeneration; Parkinson's; Meta-analysis; Imputation
 Zusammenfassung: 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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Sprache(n): eng - English
 Datum: 2014-08-042015-03
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1016/j.neurobiolaging.2014.07.028
 Art des Abschluß: -

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Titel: Neurobiology of Aging
  Andere : Neurobiol. Aging
Genre der Quelle: Zeitschrift
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Affiliations:
Ort, Verlag, Ausgabe: New York, NY [etc.] : Elsevier
Seiten: - Band / Heft: 36 (3) Artikelnummer: - Start- / Endseite: 1605.e7 - 1605.e12 Identifikator: ISSN: 0197-4580
CoNE: https://pure.mpg.de/cone/journals/resource/954925491902