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Functional impact of global rare copy number...
Journal article

Functional impact of global rare copy number variation in autism spectrum disorders

Abstract

The genetics of autismThe autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs are highly heritable, yet the underlying genetic determinants remain largely unknown. A genome-wide analysis reveals that people with ASDs carry a higher load of rare copy-number variants — segments of DNA for which …

Authors

Pinto D; Pagnamenta AT; Klei L; Anney R; Merico D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS

Journal

Nature, Vol. 466, No. 7304, pp. 368–372

Publisher

Springer Nature

Publication Date

July 2010

DOI

10.1038/nature09146

ISSN

0028-0836