A novel copy number variants kernel association test with application to autism spectrum disorders studies | Zendy

Xiang Zhan | Zendy; Santhosh Girirajan | Zendy; Ni Zhao | Zendy; Michael C. Wu | Zendy; Debashis Ghosh | Zendy

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A novel copy number variants kernel association test with application to autism spectrum disorders studies

Author(s) -

Xiang Zhan,

Santhosh Girirajan,

Ni Zhao,

Michael C. Wu,

Debashis Ghosh

Publication year - 2016

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btw500

Subject(s) - autism , association (psychology) , test (biology) , copy number variation , kernel (algebra) , spectrum (functional analysis) , genetics , autism spectrum disorder , computer science , psychology , computational biology , biology , mathematics , developmental psychology , gene , combinatorics , genome , paleontology , physics , quantum mechanics , psychotherapist

Copy number variants (CNVs) have been implicated in a variety of neurodevelopmental disorders, including autism spectrum disorders, intellectual disability and schizophrenia. Recent advances in high-throughput genomic technologies have enabled rapid discovery of many genetic variants including CNVs. As a result, there is increasing interest in studying the role of CNVs in the etiology of many complex diseases. Despite the availability of an unprecedented wealth of CNV data, methods for testing association between CNVs and disease-related traits are still under-developed due to the low prevalence and complicated multi-scale features of CNVs.

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