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Rhoades et al. J Transl Genet Genom 2019;3:1 Journal of Translational
DOI: 10.20517/jtgg.2018.26 Genetics and Genomics

Review Open Access

Discovery of rare variants implicated in
schizophrenia using next-generation sequencing

Raina Rhoades, Fatimah Jackson, Shaolei Teng

Department of Biology, Howard University, Washington, DC 20059, USA.
Correspondence to: Dr. Shaolei Teng, Department of Biology, Howard University, Washington, DC 20059, USA.
E-mail: shaolei.teng@howard.edu

How to cite this article: Rhoades R, Jackson F, Teng S. Discovery of rare variants implicated in schizophrenia using next-generation
sequencing. J Transl Genet Genom 2019;3:1. https://doi.org/10.20517/jtgg.2018.26
Received: 31 Aug 2018 First Decision: 20 Nov 2018 Revised: 5 Dec 2018 Accepted: 6 Dec 2018 Published: 20 Jan 2019

Science Editor: Sheng-Ying Qin Copy Editor: Cui Yu Production Editor: Huan-Liang Wu

Abstract

Schizophrenia is a highly heritable psychiatric disorder that affects 1% of the population. Genome-wide association
studies have identified common variants in candidate genes associated with schizophrenia, but the genetics mechanisms
of this disorder have not yet been elucidated. The discovery of rare genetic variants that contribute to schizophrenia
symptoms promises to help explain the missing heritability of the disease. Next generation sequencing techniques are
revolutionizing the field of psychiatric genetics. Various statistical approaches have been developed for rare variant
association testing in case-control and family studies. Targeted resequencing, whole exome sequencing and whole
genome sequencing combined with these computational tools are used for the discovery of rare genetic variations in
schizophrenia. The findings provide useful information for characterizing the rare mutations and elucidating the genetic
mechanisms by which the variants cause schizophrenia.

Keywords: Rare variant, schizophrenia, next-generation sequencing, rare variant association study, targeted resequencing,
whole genome sequencing, whole exome sequencing

INTRODUCTION
[1]
Schizophrenia (SCZ) is a serious psychiatric disorder that affects 1% of Americans , and over 23 million
cases are estimated in the world. The financial costs of the disease have been estimated to be $62.7 billion
[2]
in the United States . The economic burden of SCZ, including both direct costs and indirect costs, is
[3]
estimated to be $155.7 billion dollars annually . People with SCZ may experience hallucinations, delusions,
[4]
disorganized speech and social withdrawal . Psychiatric comorbidities in these patients include depression,
[5]
anxiety and cognitive deficits . The disease has great impact on the quality of life for the patients and their
© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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