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2019-04-03

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cc-by (c) Wang, Weidi et al., 2019
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/165097

De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.

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https://doi.org/10.3389/fgene.2019.00258

Abstract

Neurodevelopmental and psychiatric disorders are a highly disabling and heterogeneous group of developmental and mental disorders, resulting from complex interactions of genetic and environmental risk factors. The nature of multifactorial traits and the presence of comorbidity and polygenicity in these disorders present challenges in both disease risk identification and clinical diagnoses. The genetic component has been firmly established, but the identification of all the causative variants remains elusive. The development of next-generation sequencing, especially whole exome sequencing (WES), has greatly enriched our knowledge of the precise genetic alterations of human diseases, including brain-related disorders. In particular, the extensive usage of WES in research studies has uncovered the important contribution of de novo mutations (DNMs) to these disorders. Trio and quad familial WES are a particularly useful approach to discover DNMs. Here, we review the major WES studies in neurodevelopmental and psychiatric disorders and summarize how genes hit by discovered DNMs are shared among different disorders. Next, we discuss different integrative approaches utilized to interrogate DNMs and to identify biological pathways that may disrupt brain development and shed light on our understanding of the genetic architecture underlying these disorders. Lastly, we discuss the current state of the transition from WES research to its routine clinical application. This review will assist researchers and clinicians in the interpretation of variants obtained from WES studies, and highlights the need to develop consensus analytical protocols and validated lists of genes appropriate for clinical laboratory analysis, in order to reach the growing demands.

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Trastorns del desenvolupament, Psicopatologia

Subject (English)

Developmental disabilities, Pathological psychology

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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WANG, Weidi, COROMINAS CASTIÑEIRA, Roser and LIN, Guan Ning. De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. Frontiers In Genetics. 2019. Vol. 10, num. 258. ISSN 1664-8021. [consulted: 10 of August of 2026]. Available at: https://hdl.handle.net/2445/165097

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