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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, Suzanne ; Corvol, Jean-Christophe ; May, Patrick ; Nicolas, Aude ; 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 ; Campbell, Roy H. ; Rogaeva, Ekaterina ; Traynor, Bryan J. ; Chia, Ruth ; Chung, Sun Ju ; Hardy, John A. ; Brice, Alexis ; Wood, Nicholas W. ; Houlden, Henry ; Shulman, Joshua M. ; Morris, Huw R. ; Gasser, Thomas ; Kruger, Rejko ; Heutink, Peter ; Sharma, Manu ; Simon-Sanchez, Javier ; Nalls, Mike A. ; Singleton, Andrew B. ; Scholz, Sonja W.

Neurobiology of Aging, 2017, Vol.57, p.247.e9 [Periódico revisado por pares]

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  • Título:
    NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
  • Autor: Blauwendraat, Cornelis ; Faghri, Faraz ; Pihlstrom, Lasse ; Geiger, Joshua T. ; Elbaz, Alexis ; Lesage, Suzanne ; Corvol, Jean-Christophe ; May, Patrick ; Nicolas, Aude ; 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 ; Campbell, Roy H. ; Rogaeva, Ekaterina ; Traynor, Bryan J. ; Chia, Ruth ; Chung, Sun Ju ; Hardy, John A. ; Brice, Alexis ; Wood, Nicholas W. ; Houlden, Henry ; Shulman, Joshua M. ; Morris, Huw R. ; Gasser, Thomas ; Kruger, Rejko ; Heutink, Peter ; Sharma, Manu ; Simon-Sanchez, Javier ; Nalls, Mike A. ; Singleton, Andrew B. ; Scholz, Sonja W.
  • Assuntos: Nervous System Diseases – Genetic Aspects
  • É parte de: Neurobiology of Aging, 2017, Vol.57, p.247.e9
  • Descrição: To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.neurobiolaging.2017.05.009 Byline: Cornelis Blauwendraat (a,1), Faraz Faghri (b,c,1), Lasse Pihlstrom (d,e,f), Joshua T. Geiger (a), Alexis Elbaz (g,h), Suzanne Lesage (i), Jean-Christophe Corvol (i), Patrick May (j), Aude Nicolas (b), Yevgeniya Abramzon (b), Natalie A. Murphy (b), J. Raphael Gibbs (b), Mina Ryten (d), Raffaele Ferrari (d), Jose Bras (d), Rita Guerreiro (d), Julie Williams (k), Rebecca Sims (k), Steven Lubbe (l,m), Dena G. Hernandez (b,n), Kin Y. Mok (d,o), Laurie Robak (p), Roy H. Campbell (c), Ekaterina Rogaeva (q,r), Bryan J. Traynor (b), Ruth Chia (b), Sun Ju Chung (s), John A. Hardy (d), Alexis Brice (i), Nicholas W. Wood (l), Henry Houlden (d), Joshua M. Shulman (p,t), Huw R. Morris (l), Thomas Gasser (n,t), Rejko Kruger (j,u), Peter Heutink (n,u), Manu Sharma (u,v), Javier Simon-Sanchez (n,u), Mike A. Nalls (b,w), Andrew B. Singleton (b), Sonja W. Scholz [sonja.scholz@nih.gov] (a,x,*) International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium Keywords Genotyping; NeuroX; NeuroChip; Genetic screening; Neurodegeneration 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. Author Affiliation: (a) Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA (b) Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA (c) Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA (d) Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK (e) Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway (f) Department of Neurology, Oslo University Hospital, Oslo, Norway (g) Universite Paris-Saclay, Univ. Paris-Sud, UVSQ, CESP, INSERM-U1018, Villejuif, France (h) Sante publique France, Saint-Maurice, France (i) Inserm U1127, Sorbonne Universites, UPMC Univ Paris 06 UMR S1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France (j) Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-Sur-Alzette, Luxembourg (k) Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK (l) Department of Clinical Neuroscience, UCL Institute of Neurology, London, UK (m) Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA (n) German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany (o) Division of Life Science, Hong Kong University of Science and Technology, Hong Kong SAR, China (p) Department of Neurology, Baylor College of Medicine, Houston, TX, USA (q) Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada (r) Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada (s) Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (t) Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA (u) Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany (v) Centre for Genetic Epidemiology, Institute of Clinical Epidemiology and Applied Biometry, University of Tubingen, Tubingen, Germany (w) Data Tecnica International, Glen Echo, MD, USA (x) Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA * Corresponding author at: Neurogenetics Branch, NINDS | National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA. Tel.: +1 (301) 435-1788; fax: +1 (301) 451-7295. Article History: Received 8 March 2017; Revised 8 May 2017; Accepted 8 May 2017 (footnote)1 These authors contributed equally.
  • Idioma: Inglês

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