Variant detection and the Autism sequencing project


Background Early detection of autism can improve the quality of life of affected individuals [1]. Qualitative screening methods continue to improve, but still suffer from low sensitivity despite increasing specificity [2,3]. In collaboration with the Hospital for Sick Children, we are sequencing the exomes of 1 000 individuals with autism in order to discover genetic variants associated with the disorder. Discovery of associated variants can lead to earlier diagnosis and treatment.

DOI: 10.1186/1471-2105-12-S11-A4

Cite this paper

@inproceedings{Buske2011VariantDA, title={Variant detection and the Autism sequencing project}, author={Orion J. Buske and Misko Dzamba and Justin Foong and Lynette Lau and Marc Fiume and Christian Marshall and Susan Walker and Aparna Prasad and Michael Brudno}, booktitle={BMC Bioinformatics}, year={2011} }