Study repository: A relational database of SFARI Gene CNVs data integrated with associated genes and GO terms for the study of genetics in neurodevelopmental disorders

Name: Study repository: A relational database of SFARI Gene CNVs data integrated with associated genes and GO terms for the study of genetics in neurodevelopmental disorders
Creator: Coimbra Institute for Biomedical Imaging and Translational Research, ICNAS, Faculty of Medicine, University of Coimbra; Coimbra Institute for Biomedical Imaging and Translational Research, ICNAS, Faculty of Medicine, University of Coimbra; CIBB, Faculty of Medicine, University of Coimbra; CIBB, Faculty of Medicine, University of Coimbra
Published: 2022-01-01T00:00:00+08:00

Harvard Dataverse2023-07-13 更新2026-04-09 收录

神经发育障碍遗传学

拷贝数变异分析

数据链接：

https://dataverse.harvard.edu/citation?persistentId=doi:10.7910/DVN/HO1JLJ 数据链接链接失效反馈

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资源简介：

This work aimed to transform raw data in high quality and well organized data for research studies addressing genetics and neurodevelopmental disorders. Information and relations between patients, cnvs, genes, GO terms, and diagnoses where passed through a very demanding quality check analysis before being inserted in the relational database in order to eliminate redundancies and enhance uniformity whenever possible. By using this data, researchers can start their work one step further by querying and identifying data suitable for analysis rather than spent time in tasks related to data cleaning and data pre-processing.

提供机构：

Coimbra Institute for Biomedical Imaging and Translational Research, ICNAS, Faculty of Medicine, University of Coimbra; Coimbra Institute for Biomedical Imaging and Translational Research, ICNAS, Faculty of Medicine, University of Coimbra; CIBB, Faculty of Medicine, University of Coimbra; CIBB, Faculty of Medicine, University of Coimbra

创建时间：

2022-01-01