Premium
Genetics of movement disorders in the next‐generation sequencing era
Author(s) -
Olgiati Simone,
Quadri Marialuisa,
Bonifati Vincenzo
Publication year - 2016
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26521
Subject(s) - dna sequencing , pace , exome sequencing , data science , emerging technologies , personalized medicine , biology , exome , computational biology , genetics , gene , computer science , mutation , artificial intelligence , geodesy , geography
Several innovative and extremely powerful methods for sequencing nucleic acids (DNA and RNA), collectively known as next‐generation sequencing technologies, have become available in the past few years. The application of these technologies is rapidly changing the landscape of both medical genetic research and clinical practice: the pace of discovery of novel disease‐causing or disease‐predisposing genes is markedly accelerating; the phenotypic spectra associated with previously known genes is expanding; and novel tools for rapid, cheap, and comprehensive genetic testing are entering the clinical practice. As with every technological revolution, next‐generation sequencing also comes with new challenges concerning the storage, the analysis, and crucially, the interpretation of the large amounts of generated data. The current possibility to sequence entire human exomes (the coding part of the genome) or entire genomes at affordable costs has brought the era of personalized medicine closer than ever, also raising new legal and ethical issues. In this article, we summarize the essential technological aspects of next‐generation sequencing and discuss their applications in the field of movement disorders. We review the different strategies for gene finding enabled by these technologies (including project designs, filtering approaches, and bioinformatic tools) and we then discuss their applications in clinical practice. © 2016 International Parkinson and Movement Disorder Society