Next-generation sequencing in understanding complex neurological disease

Adam E Handel Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK; Blizard Institute, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Newark Street, London, E1 2AT, UK; Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK; Blizard Institute, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Newark Street, London, E1 2AT, UK

Giulio Disanto Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK; Blizard Institute, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Newark Street, London, E1 2AT, UK; Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK; Blizard Institute, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Newark Street, London, E1 2AT, UK

Sreeram V Ramagopalan Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK; Blizard Institute, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Newark Street, London, E1 2AT, UK; Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK. [email protected]

Abstract

Next-generation sequencing techniques have made vast quantities of data on human genomes and transcriptomes available to researchers. Huge progress has been made towards understanding the basis of many Mendelian neurological conditions, but progress has been considerably slower in complex neurological diseases (multiple sclerosis, migraine, Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis, and so on). The authors review current next-generation sequencing methodologies and present selected studies illustrating how these have been used to cast light on the genetic etiology of complex neurological diseases with specific focus on multiple sclerosis. The authors highlight particular pitfalls in next-generation sequencing experiments and speculate on both clinical and research applications of these sequencing platforms for complex neurological disorders in the future.

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Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

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Next-generation sequencing in understanding complex neurological disease

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Next-generation sequencing in understanding complex neurological disease

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