Article
Transmission disequilibrium of small CNVs in simplex autism.
American journal of human genetics - 3 Oct 2013
Krumm Niklas, O'Roak Brian J, Karakoc Emre, Mohajeri Kiana, Nelson Ben, Vives Laura, Jacquemont Sebastien, Munson Jeff, Bernier Raphe, Eichler Evan E
Abstract excerpt
We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded ∼2× more smaller genic rare CNVs. We found that affected probands inherited more CNVs...
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