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CNVs/InDels analysis based on exome data in the etiology of ASD

Grant number: 15/20064-9
Support type:Scholarships abroad - Research Internship - Master's degree
Effective date (Start): December 01, 2015
Effective date (End): December 22, 2015
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Maria Rita dos Santos e Passos Bueno
Grantee:Isabela Mayá Wayhs Silva
Supervisor abroad: Lauren Weiss
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Local de pesquisa : University of California, San Francisco (UCSF), United States  
Associated to the scholarship:14/13056-7 - Characterization of INDELs and small CNVs in patients with autism spectrum disorder, BP.MS

Abstract

Structural variations (InDels - Insertions or deletions smaller than 1kb, CNVs - Copy number variations) are known to be important risk factors for autism spectrum disorders (ASD); however, the contribution of small alterations (<50 kb) to the etiology of these disorders remains largely unknown. These alterations are difficult to detect, and the array comparative genomic hybridization (aCGH) and next generation sequencing (NGS), the most used detection methods, exhibit different technical limitations. As the limitations and advantages of these methods are complementary in terms of resolution, breakpoint detection, coverage and data analysis, the best way to overcome their limitations is through the integration of those techniques through combination of different software for data analysis. In this context we expect that integrating aCGH and NGS data will allow us to estimate the impact of small CNVs/InDels in the etiology of ASD. (AU)