Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Bioinformatics. 2019 Oct 1;35(19):3771-3778. doi: 10.1093/bioinformatics/btz128.
Advances in neuroimaging and sequencing techniques provide an unprecedented opportunity to map the function of brain regions and identify the roots of psychiatric diseases. However, the results from most neuroimaging studies, i.e. activated clusters/regions or functional connectivities between brain regions, frequently cannot be conveniently and systematically interpreted, rendering the biological meaning unclear.
We describe a brain annotation toolbox that generates functional and genetic annotations for neuroimaging results. The voxel-level functional description from the Neurosynth database and gene expression profile from the Allen Human Brain Atlas are used to generate functional/genetic information for region-level neuroimaging results. The validity of the approach is demonstrated by showing that the functional and genetic annotations for specific brain regions are consistent with each other; and further the region by region functional similarity network and genetic similarity network are highly correlated for major brain atlases. One application of brain annotation toolbox is to help provide functional/genetic annotations for newly discovered regions with unknown functions, e.g. the 97 new regions identified in the Human Connectome Project. Importantly, this toolbox can help understand differences between psychiatric patients and controls, and this is demonstrated using schizophrenia and autism data, for which the functional and genetic annotations for the neuroimaging changes in patients are consistent with each other and help interpret the results.
BAT is implemented as a free and open-source MATLAB toolbox and is publicly available at http://123.56.224.61:1313/post/bat.
Supplementary data are available at Bioinformatics online.
神经影像学和测序技术的进步为绘制大脑区域的功能图和确定精神疾病的根源提供了前所未有的机会。然而，大多数神经影像学研究的结果，即大脑区域的激活集群/区域或功能连通性，通常无法方便和系统地解释，使其生物学意义不明确。
我们描述了一个大脑注释工具箱，它为神经影像学结果生成功能和遗传注释。使用神经影像数据库中的体素级功能描述和艾伦人脑图谱中的基因表达谱来生成区域级神经影像学结果的功能/遗传信息。该方法的有效性通过以下方式证明：特定大脑区域的功能和遗传注释彼此一致；并且对于主要大脑图谱，区域间功能相似性网络和遗传相似性网络高度相关。大脑注释工具箱的一个应用是帮助为具有未知功能的新发现区域提供功能/遗传注释，例如人类连接组计划中确定的 97 个新区域。重要的是，该工具箱可以帮助理解精神病患者和对照组之间的差异，这在精神分裂症和自闭症数据中得到了证明，对于这些数据，患者神经影像学变化的功能和遗传注释彼此一致，并有助于解释结果。
BAT 作为一个免费的开源 MATLAB 工具箱实现，并在 http://123.56.224.61:1313/post/bat 上公开提供。
补充数据可在生物信息学在线获得。
