Japanese Journal of Biological Psychiatry
Online ISSN : 2186-6465
Print ISSN : 2186-6619
Interpretation of rare variant analyses in neuropsychiatric disorders 101
Atsushi Takata
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JOURNAL OPEN ACCESS

2019 Volume 30 Issue 1 Pages 10-13

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Abstract
Along with the advent and spread of the next generation sequencing technology, now it is capable of comprehensively analyzing rare variants by reading more than thousands of whole human genomes or exomes. On the other hand, such studies leading to extensive cataloging of rare variants have revealed prominent interindividual variability in the human genome. Specifically, it has been demonstrated that every individual has a lot of “seemingly important” variants (e.g. those totally disrupt or partially alter a protein sequence) . Amid this situation, researchers developed various methodological procedures as well as formed large consortia, and have conducted studies aiming to identify bona fide genes/variants associated with neuropsychiatric disorders. Rationale of, and results from such studies will be reviewed.
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© 2019 Japanese Society of Biological Psychiatry
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