Next-generation sequencing in understanding complex neurological disease

Expert Rev Neurother. 2013 Feb;13(2):215-227.

Handel AE, Disanto G, Ramagopalan SV.

Source

Department of Physiology, Anatomy and Genetics and Medical Research Council Functional Genomics Unit, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK.

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.