title: Detecting rare variants for psychiatric disorders using next generation sequencing: a methods primer.
abstract: Recent advances in massively parallel sequencing (MPS) have had an extensive impact on research in medical genomics. In particular, the analysis of rare variants using MPS promises to lead to a better understanding of complex disorders. Nevertheless, for meaningful studies that address the genetic basis for neuropsychiatric disorders, at least hundreds of patient samples have to be analyzed. This undertaking is still not feasible for single research groups on a whole-genome scale and in individual samples. Thus, researchers increasingly employ strategies for reducing the amount of sequencing efforts, such as target enrichment and non-barcoded sample pooling. This review provides an overview of current technologies, discusses options for reduced experimental designs, and illustrates the successful application of the presented methodologies in a recent study of panic disorder patients. Thereby, it aims to introduce the emerging field of MPS into neuropsychiatric research and might serve as a guide for further studies.
authors.affiliation: Department of Neurology & Neurological Sciences, Functional Imaging in Neurodegenerative Disorders Laboratory, Stanford University, Stanford, CA, USA. altmann@stanford.edu
authors.forename: Andre
authors.initials: A
authors.lastname: Altmann
authors.forename: Carina
authors.initials: C
authors.lastname: Quast
authors.forename: Peter
authors.initials: P
authors.lastname: Weber
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D001523:Mental Disorders / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*