Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders

被引：121

作者：

机构：

来源：

NEURON | 2012年 / 73卷 / 06期

关键词：

COPY-NUMBER VARIATION; CHROMOSOME; 16P11.2; DE-NOVO; DELETIONS; RESOURCE; OBESITY;

D O I：

10.1016/j.neuron.2012.02.014

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by web-based recruitment, multisite collaboration and calibration, and robust data-sharing policies could be adopted by other groups studying neuropsychiatric disorders to accelerate the pace of research.

引用

页码：1063 / 1067

页数：5

共 15 条

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